Classes

http://nanbyodata.jp/ontology/nanbyo#0000001 (rdf:type owl:Class )
dcterms:identifier "0000001" xsd:string
rdfs:label "難病疾患分類" @ja
http://nanbyodata.jp/ontology/nanbyo#0000002 (rdf:type owl:Class )
dcterms:identifier "0000002" xsd:string
hasExactSynonym "Neuromuscular disease" @en
rdfs:label "神経・筋疾患" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#0000001
http://nanbyodata.jp/ontology/nanbyo#0000003 (rdf:type owl:Class )
dcterms:identifier "0000003" xsd:string
hasExactSynonym "Metabolic disease" @en
rdfs:label "代謝系疾患" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#0000001
http://nanbyodata.jp/ontology/nanbyo#0000004 (rdf:type owl:Class )
dcterms:identifier "0000004" xsd:string
hasExactSynonym "Skin and connective tissue disease" @en
rdfs:label "皮膚・結合組織疾患" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#0000001
http://nanbyodata.jp/ontology/nanbyo#0000005 (rdf:type owl:Class )
dcterms:identifier "0000005" xsd:string
hasExactSynonym "Immune system disease" @en
rdfs:label "免疫系疾患" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#0000001
http://nanbyodata.jp/ontology/nanbyo#0000006 (rdf:type owl:Class )
dcterms:identifier "0000006" xsd:string
hasExactSynonym "Cardiovascular disease" @en
rdfs:label "循環器系疾患" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#0000001
http://nanbyodata.jp/ontology/nanbyo#0000007 (rdf:type owl:Class )
dcterms:identifier "0000007" xsd:string
hasExactSynonym "Blood disease" @en
rdfs:label "血液系疾患" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#0000001
http://nanbyodata.jp/ontology/nanbyo#0000008 (rdf:type owl:Class )
dcterms:identifier "0000008" xsd:string
hasExactSynonym "Renal and urological disease" @en
rdfs:label "腎・泌尿器系疾患" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#0000001
http://nanbyodata.jp/ontology/nanbyo#0000009 (rdf:type owl:Class )
dcterms:identifier "0000009" xsd:string
hasExactSynonym "Bone and joint disease" @en
rdfs:label "骨・関節系疾患" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#0000001
http://nanbyodata.jp/ontology/nanbyo#0000010 (rdf:type owl:Class )
dcterms:identifier "0000010" xsd:string
hasExactSynonym "Endocrine disease" @en
rdfs:label "内分泌系疾患" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#0000001
http://nanbyodata.jp/ontology/nanbyo#0000011 (rdf:type owl:Class )
dcterms:identifier "0000011" xsd:string
hasExactSynonym "Respiratory disease" @en
rdfs:label "呼吸器系疾患" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#0000001
http://nanbyodata.jp/ontology/nanbyo#0000012 (rdf:type owl:Class )
dcterms:identifier "0000012" xsd:string
hasExactSynonym "Eye and visual system disease" @en
rdfs:label "視覚系疾患" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#0000001
http://nanbyodata.jp/ontology/nanbyo#0000013 (rdf:type owl:Class )
dcterms:identifier "0000013" xsd:string
hasExactSynonym "Hearing and balance disorder" @en
rdfs:label "聴覚・平衡機能系疾患" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#0000001
http://nanbyodata.jp/ontology/nanbyo#0000014 (rdf:type owl:Class )
dcterms:identifier "0000014" xsd:string
hasExactSynonym "Gastrointestinal disease" @en
rdfs:label "消化器系疾患" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#0000001
http://nanbyodata.jp/ontology/nanbyo#0000015 (rdf:type owl:Class )
dcterms:identifier "0000015" xsd:string
hasExactSynonym "Chromosome abnormality" @en
rdfs:label "染色体または遺伝子に変化を伴う症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#0000001
http://nanbyodata.jp/ontology/nanbyo#0000016 (rdf:type owl:Class )
dcterms:identifier "0000016" xsd:string
hasExactSynonym "Otorhinolaryngological disease" @en
rdfs:label "耳鼻科系疾患" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#0000001
http://nanbyodata.jp/ontology/nanbyo#1000001 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "1" xsd:string
dcterms:identifier "1000001" xsd:string
hasExactSynonym "Spinal and bulbar muscular atrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/001-201704-kojin.pdf
rdfs:label "球脊髄性筋萎縮症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010735
http://nanbyodata.jp/ontology/nanbyo#1000002 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "2" xsd:string
dcterms:identifier "1000002" xsd:string
hasExactSynonym "Amyotrophic lateral sclerosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/002-201704-kojin.pdf
rdfs:label "筋萎縮性側索硬化症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0004976
http://nanbyodata.jp/ontology/nanbyo#1000003 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "3" xsd:string
dcterms:identifier "1000003" xsd:string
hasExactSynonym "Spinal muscular atrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/003-201704-kojin.pdf
rdfs:label "脊髄性筋萎縮症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0001516
http://nanbyodata.jp/ontology/nanbyo#1000004 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "3" xsd:string
dcterms:identifier "1000004" xsd:string
hasExactSynonym "Spinal muscular atrophy type1" @en
hasExactSynonym "Werdnig-Hoffmann disease" @en
hasExactSynonym "ウェルドニッヒ・ホフマン病" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/003-201704-kojin.pdf
rdfs:label "脊髄性筋萎縮症 I 型" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000003
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009669
http://nanbyodata.jp/ontology/nanbyo#1000005 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "3" xsd:string
dcterms:identifier "1000005" xsd:string
hasExactSynonym "Dubowitz disease" @en
hasExactSynonym "Spinal muscular atrophy type2" @en
hasExactSynonym "デュボビッツ病" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/003-201704-kojin.pdf
rdfs:label "脊髄性筋萎縮症 II 型" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000003
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009124
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009673
http://nanbyodata.jp/ontology/nanbyo#1000006 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "3" xsd:string
dcterms:identifier "1000006" xsd:string
hasExactSynonym "Kugelberg-Welander disease" @en
hasExactSynonym "Spinal muscular atrophy type3" @en
hasExactSynonym "クーゲンベルグ・ウェランダー病" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/003-201704-kojin.pdf
rdfs:label "脊髄性筋萎縮症 III 型" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000003
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009672
http://nanbyodata.jp/ontology/nanbyo#1000007 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "3" xsd:string
dcterms:identifier "1000007" xsd:string
hasExactSynonym "SMA type4" @en
hasExactSynonym "Spinal muscular atrophy type4" @en
hasExactSynonym "成人発症型" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/003-201704-kojin.pdf
rdfs:label "脊髄性筋萎縮症 IV 型" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000003
http://nanbyodata.jp/ontology/nanbyo#1000008 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "4" xsd:string
dcterms:identifier "1000008" xsd:string
hasExactSynonym "Primary lateral sclerosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/004-201704-kojin.pdf
rdfs:label "原発性側索硬化症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018155
http://nanbyodata.jp/ontology/nanbyo#1000009 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "5" xsd:string
dcterms:identifier "1000009" xsd:string
hasExactSynonym "Progressive supranuclear palsy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/005-201704-kojin.pdf
rdfs:label "進行性核上性麻痺" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019037
http://nanbyodata.jp/ontology/nanbyo#1000010 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "6" xsd:string
dcterms:identifier "1000010" xsd:string
hasExactSynonym "Parkinson disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/006-201804-kojin.pdf
rdfs:label "パーキンソン病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005180
http://nanbyodata.jp/ontology/nanbyo#1000011 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "7" xsd:string
dcterms:identifier "1000011" xsd:string
hasExactSynonym "Corticobasal degeneration" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/007-201704-kojin.pdf
rdfs:label "大脳皮質基底核変性症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0022308
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0022880
http://nanbyodata.jp/ontology/nanbyo#1000012 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "8" xsd:string
dcterms:identifier "1000012" xsd:string
hasExactSynonym "Huntington disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/008-201704-kojin.pdf
rdfs:label "ハンチントン病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007739
http://nanbyodata.jp/ontology/nanbyo#1000013 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "9" xsd:string
dcterms:identifier "1000013" xsd:string
hasExactSynonym "Neuroacanthocytosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/009-201704-kojin.pdf
rdfs:label "神経有棘赤血球症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008695
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016987
http://nanbyodata.jp/ontology/nanbyo#1000014 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "9" xsd:string
dcterms:identifier "1000014" xsd:string
hasExactSynonym "Choreoacanthocytosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/009-201704-kojin.pdf
rdfs:label "有棘赤血球舞踏病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000013
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008695
http://nanbyodata.jp/ontology/nanbyo#1000015 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "9" xsd:string
dcterms:identifier "1000015" xsd:string
hasExactSynonym "McLeod syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/009-201704-kojin.pdf
rdfs:label "Mcleod症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000013
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018945
http://nanbyodata.jp/ontology/nanbyo#1000016 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "10" xsd:string
dcterms:identifier "1000016" xsd:string
hasExactSynonym "Charcot-Marie-Tooth disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/010-201704-kojin.pdf
rdfs:label "シャルコー・マリー・トゥース病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015626
http://nanbyodata.jp/ontology/nanbyo#1000017 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "10" xsd:string
dcterms:identifier "1000017" xsd:string
hasExactSynonym "Charcot-Marie-Tooth disease type 1" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/010-201704-kojin.pdf
rdfs:label "脱髄型CMT" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000016
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019011
http://nanbyodata.jp/ontology/nanbyo#1000018 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "10" xsd:string
dcterms:identifier "1000018" xsd:string
hasExactSynonym "Charcot-Marie-Tooth disease type 2" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/010-201704-kojin.pdf
rdfs:label "軸索型CMT" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000016
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018993
http://nanbyodata.jp/ontology/nanbyo#1000019 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "10" xsd:string
dcterms:identifier "1000019" xsd:string
hasExactSynonym "Intermediate Charcot-Marie-Tooth disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/010-201704-kojin.pdf
rdfs:label "中間型CMT" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000016
http://nanbyodata.jp/ontology/nanbyo#1000020 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "11" xsd:string
dcterms:identifier "1000020" xsd:string
hasExactSynonym "Myasthenia gravis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/011-201704-kojin.pdf
rdfs:label "重症筋無力症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009688
http://nanbyodata.jp/ontology/nanbyo#1000021 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "12" xsd:string
dcterms:identifier "1000021" xsd:string
hasExactSynonym "Congenital myasthenic syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/012-201704-kojin.pdf
rdfs:label "先天性筋無力症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018940
http://nanbyodata.jp/ontology/nanbyo#1000022 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "13" xsd:string
dcterms:identifier "1000022" xsd:string
hasExactSynonym "Multiple sclerosis/Neuromyelitis Optica" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/013-201704-kojin.pdf
rdfs:label "多発性硬化症/視神経脊髄炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000023 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "13" xsd:string
dcterms:identifier "1000023" xsd:string
hasExactSynonym "Multiple sclerosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/013-201704-kojin.pdf
rdfs:label "多発性硬化症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000022
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005301
http://nanbyodata.jp/ontology/nanbyo#1000024 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "13" xsd:string
dcterms:identifier "1000024" xsd:string
hasExactSynonym "Relapsing-remitting multiple sclerosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/013-201704-kojin.pdf
rdfs:label "再発寛解型MS" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000023
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005314
http://nanbyodata.jp/ontology/nanbyo#1000025 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "13" xsd:string
dcterms:identifier "1000025" xsd:string
hasExactSynonym "primary progressive multiple sclerosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/013-201704-kojin.pdf
rdfs:label "一次性進行型MS" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000023
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000451
http://nanbyodata.jp/ontology/nanbyo#1000026 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "13" xsd:string
dcterms:identifier "1000026" xsd:string
hasExactSynonym "secondary progressive multiple sclerosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/013-201704-kojin.pdf
rdfs:label "二次性進行型MS" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000023
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000450
http://nanbyodata.jp/ontology/nanbyo#1000027 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "13" xsd:string
dcterms:identifier "1000027" xsd:string
hasExactSynonym "Neuromyelitis Optica" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/013-201704-kojin.pdf
rdfs:label "視神経脊髄炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000022
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019100
http://nanbyodata.jp/ontology/nanbyo#1000028 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "13" xsd:string
dcterms:identifier "1000028" xsd:string
hasExactSynonym "Baló concentric sclerosis" @en
hasExactSynonym "バロー同心円硬化症" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/013-201704-kojin.pdf
rdfs:label "Baló病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000022
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016430
http://nanbyodata.jp/ontology/nanbyo#1000029 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "14" xsd:string
dcterms:identifier "1000029" xsd:string
hasExactSynonym "Chronic inflammatory demyelinating polyneuropathy/Multifocal motor neuropathy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/014-201704-kojin.pdf
rdfs:label "慢性炎症性脱髄性多発神経炎/多巣性運動ニューロパチー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000030 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "14" xsd:string
dcterms:identifier "1000030" xsd:string
hasExactSynonym "Chronic inflammatory demyelinating polyneuropathy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/014-201704-kojin.pdf
rdfs:label "慢性炎症性脱髄性多発神経炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000029
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002335
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007691
http://nanbyodata.jp/ontology/nanbyo#1000031 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "14" xsd:string
dcterms:identifier "1000031" xsd:string
hasExactSynonym "Multifocal motor neuropathy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/014-201704-kojin.pdf
rdfs:label "多巣性運動ニューロパチー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000029
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018979
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "15" xsd:string
dcterms:identifier "1000032" xsd:string
hasExactSynonym "Inclusion body myositis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/015-201704-kojin.pdf
rdfs:label "封入体筋炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000033 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "16" xsd:string
dcterms:identifier "1000033" xsd:string
hasExactSynonym "Crow-Fukase syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/016-201704-kojin.pdf
rdfs:label "クロウ・深瀬症候群" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017364
http://nanbyodata.jp/ontology/nanbyo#1000034 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "17" xsd:string
dcterms:identifier "1000034" xsd:string
hasExactSynonym "Multiple system atrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/017-201704-kojin.pdf
rdfs:label "多系統萎縮症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007803
http://nanbyodata.jp/ontology/nanbyo#1000035 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "17" xsd:string
dcterms:identifier "1000035" xsd:string
hasExactSynonym "Multiple system atrophy, cerebellar type" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/017-201704-kojin.pdf
rdfs:label "MSA-C" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000034
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016418
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "17" xsd:string
dcterms:identifier "1000036" xsd:string
hasExactSynonym "Multiple system atrophy, parkinsonian type" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/017-201704-kojin.pdf
rdfs:label "MSA-P" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000034
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020352
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "18" xsd:string
dcterms:identifier "1000037" xsd:string
hasExactSynonym "Spinocerebellar degeneration" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf
rdfs:label "脊髄小脳変性症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000437
http://nanbyodata.jp/ontology/nanbyo#1000038 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "18" xsd:string
dcterms:identifier "1000038" xsd:string
hasExactSynonym "Sporadic Spinocerebellar Degeneration" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf
rdfs:label "孤発性脊髄小脳変性症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000037
http://nanbyodata.jp/ontology/nanbyo#1000039 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "18" xsd:string
dcterms:identifier "1000039" xsd:string
hasExactSynonym "cortical cerebellar atrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf
rdfs:label "皮質性小脳萎縮症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000038
http://nanbyodata.jp/ontology/nanbyo#1000040 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "18" xsd:string
dcterms:identifier "1000040" xsd:string
hasExactSynonym "autosomal dominant spinocerebellar degeneration" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf
rdfs:label "常染色体優性遺伝性脊髄小脳変性症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000037
http://nanbyodata.jp/ontology/nanbyo#1000041 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "18" xsd:string
dcterms:identifier "1000041" xsd:string
hasExactSynonym "MJD" @en
hasExactSynonym "spinocerebellar ataxia type 3" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf
rdfs:label "脊髄小脳失調症3型" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000040
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007182
http://nanbyodata.jp/ontology/nanbyo#1000042 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "18" xsd:string
dcterms:identifier "1000042" xsd:string
hasExactSynonym "SCA3" @en
hasExactSynonym "spinocerebellar ataxia type 6" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf
rdfs:label "脊髄小脳失調症6型" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007182
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008457
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "18" xsd:string
dcterms:identifier "1000043" xsd:string
hasExactSynonym "DRPLA" @en
hasExactSynonym "Dentatorubropallidoluysian atrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf
rdfs:label "歯状核赤核淡蒼球ルイ体萎縮症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007435
http://nanbyodata.jp/ontology/nanbyo#1000044 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "18" xsd:string
dcterms:identifier "1000044" xsd:string
hasExactSynonym "spinocerebellar ataxia type 31" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf
rdfs:label "脊髄小脳失調症31型" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007296
http://nanbyodata.jp/ontology/nanbyo#1000045 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "18" xsd:string
dcterms:identifier "1000045" xsd:string
hasExactSynonym "spinocerebellar ataxia type 1" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf
rdfs:label "脊髄小脳失調症1型" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000040
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008119
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "18" xsd:string
dcterms:identifier "1000046" xsd:string
hasExactSynonym "spinocerebellar ataxia type 2" @en
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rdfs:label "脊髄小脳失調症2型" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008458
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "18" xsd:string
dcterms:identifier "1000047" xsd:string
hasExactSynonym "spinocerebellar ataxia type 7" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf
rdfs:label "脊髄小脳失調症7型" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008120
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "18" xsd:string
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hasExactSynonym "spinocerebellar ataxia type 36" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf
rdfs:label "脊髄小脳失調症36型" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0013594
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "18" xsd:string
dcterms:identifier "1000049" xsd:string
hasExactSynonym "autosomal dominant spinocerebellar degeneration" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf
rdfs:label "常染色体劣性遺伝性脊髄小脳変性症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000037
http://nanbyodata.jp/ontology/nanbyo#1000050 (rdf:type owl:Class )
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has_notification_number "18" xsd:string
dcterms:identifier "1000050" xsd:string
hasExactSynonym "Ataxia with isolated vitamin E deficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf
rdfs:label "ビタミンE単独欠乏性失調症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010188
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "18" xsd:string
dcterms:identifier "1000051" xsd:string
hasExactSynonym "AOA1" @en
hasExactSynonym "Early-onset ataxia with ocular motor apraxia and hypoalbuminemia" @en
hasExactSynonym "ataxia-oculomotor apraxia Type 1" @en
hasExactSynonym "眼球運動失行・低アルブミン血症を伴う早発型失調症" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/018-201704-kojin.pdf
rdfs:label "アプラタキシン欠損症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008842
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has_notification_number "18" xsd:string
dcterms:identifier "1000052" xsd:string
hasExactSynonym "hereditary spastic paraplegia" @en
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rdfs:label "痙性対麻痺" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019064
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has_notification_number "18" xsd:string
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hasExactSynonym "pure hereditary spastic paraplegia" @en
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rdfs:label "痙性対麻痺(純粋型)" @ja
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has_notification_number "18" xsd:string
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hasExactSynonym "complex hereditary spastic paraplegia" @en
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rdfs:label "痙性対麻痺(複合型)" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015150
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has_notification_number "19" xsd:string
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hasExactSynonym "Lysosomal storage disease" @en
rdfs:isDefinedBy file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002561
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has_notification_number "19" xsd:string
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hasExactSynonym "Gaucher disease" @en
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hasExactSynonym "GM1 Gangliosidosis" @en
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hasExactSynonym "GM1 gangliosidosis type 1" @en
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hasExactSynonym "GM2 Gangliosidosis" @en
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hasExactSynonym "Metachromatic leukodystrophy" @en
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hasExactSynonym "Metachromatic leukodystrophy, juvenile form" @en
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hasExactSynonym "Metachromatic leukodystrophy, adult form" @en
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hasExactSynonym "neonatal multiple sulfatase deficiency" @en
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hasExactSynonym "Late-infantile multiple sulfatase deficiency" @en
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rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-12-201704-kojin.pdf
rdfs:label "Sanfilippo症候群C型" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000101
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009657
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018937
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000105" xsd:string
hasExactSynonym "Mucopolysaccharidosis type 3" @en
hasExactSynonym "Sanfilippo syndrome type D" @en
hasExactSynonym "ムコ多糖症III型 " @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-12-201704-kojin.pdf
rdfs:label "Sanfilippo症候群D型" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009658
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018937
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
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hasExactSynonym "Morquio disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-13-201704-kojin.pdf
rdfs:label "Morquio症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000055
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018938
http://nanbyodata.jp/ontology/nanbyo#1000107 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000107" xsd:string
hasExactSynonym "Morquio disease type A" @en
hasExactSynonym "Mucopolysaccharidosis type 4" @en
hasExactSynonym "ムコ多糖症IV型 " @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-13-201704-kojin.pdf
rdfs:label "Morquio症候群A型" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000106
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009659
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018938
http://nanbyodata.jp/ontology/nanbyo#1000108 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
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hasExactSynonym "Morquio disease type B" @en
hasExactSynonym "Mucopolysaccharidosis type 4" @en
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rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-13-201704-kojin.pdf
rdfs:label "Morquio症候群B型" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000106
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009660
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http://nanbyodata.jp/ontology/nanbyo#1000109 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000109" xsd:string
hasExactSynonym "Maroteaux-Lamy syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-14-201704-kojin.pdf
rdfs:label "Maroteaux-Lamy症候群" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009661
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000110" xsd:string
hasExactSynonym "Mucopolysaccharidosis type 5" @en
hasExactSynonym "Mucopolysaccharidosis type 6, rapidly progressing" @en
hasExactSynonym "ムコ多糖症VI型 " @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-14-201704-kojin.pdf
rdfs:label "Maroteaux-Lamy症候群(重症型)" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011760
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017171
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has_notification_number "19" xsd:string
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hasExactSynonym "Mucopolysaccharidosis type 5" @en
hasExactSynonym "Mucopolysaccharidosis type 6, slowly progressing" @en
hasExactSynonym "ムコ多糖症VI型 " @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011760
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017172
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has_notification_number "19" xsd:string
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hasExactSynonym "Sly syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-15-201704-kojin.pdf
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009662
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hasExactSynonym "" @en
hasExactSynonym "Mucopolysaccharidosis type 6" @en
hasExactSynonym "ムコ多糖症VII型 " @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-15-201704-kojin.pdf
rdfs:label "Sly病(新生児型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000112
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009661
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has_notification_number "19" xsd:string
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hasExactSynonym "" @en
hasExactSynonym "Mucopolysaccharidosis type 6" @en
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rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-15-201704-kojin.pdf
rdfs:label "Sly病(中間型)" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
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http://nanbyodata.jp/ontology/nanbyo#1000115 (rdf:type owl:Class )
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has_notification_number "19" xsd:string
dcterms:identifier "1000115" xsd:string
hasExactSynonym "" @en
hasExactSynonym "Mucopolysaccharidosis type 6" @en
hasExactSynonym "ムコ多糖症VII型 " @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-15-201704-kojin.pdf
rdfs:label "Sly病(軽症型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000112
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009661
http://nanbyodata.jp/ontology/nanbyo#1000116 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000116" xsd:string
hasExactSynonym "Hyaluronidase deficiency" @en
hasExactSynonym "Mucopolysaccharidosis type 7" @en
hasExactSynonym "ムコ多糖症IX型 " @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-16-201704-kojin.pdf
rdfs:label "ヒアルロニダーゼ欠損症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000055
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009662
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011093
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000117" xsd:string
hasExactSynonym "Sialidosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-17-201704-kojin.pdf
rdfs:label "シアリドーシス" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009738
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017734
http://nanbyodata.jp/ontology/nanbyo#1000118 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000118" xsd:string
hasExactSynonym "Sialidosis type 1" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-17-201704-kojin.pdf
rdfs:label "シアリドーシス(Ⅰ型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000117
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009738
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019346
http://nanbyodata.jp/ontology/nanbyo#1000119 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000119" xsd:string
hasExactSynonym "Sialidosis type 2" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-17-201704-kojin.pdf
rdfs:label "シアリドーシス(Ⅱ型)" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009738
http://nanbyodata.jp/ontology/nanbyo#1000120 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000120" xsd:string
hasExactSynonym "Galactosialidosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-18-201704-kojin.pdf
rdfs:label "ガラクトシアリドーシス" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000055
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009737
http://nanbyodata.jp/ontology/nanbyo#1000121 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000121" xsd:string
hasExactSynonym "Early-infantile galactosialidosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-18-201704-kojin.pdf
rdfs:label "ガラクトシアリドーシス(新生児及び早期乳児型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000120
http://nanbyodata.jp/ontology/nanbyo#1000122 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000122" xsd:string
hasExactSynonym "Late infantile galactosialidosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-18-201704-kojin.pdf
rdfs:label "ガラクトシアリドーシス(晩期乳児型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000120
http://nanbyodata.jp/ontology/nanbyo#1000123 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000123" xsd:string
hasExactSynonym "Juvenile/adult galactosialidosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-18-201704-kojin.pdf
rdfs:label "ガラクトシアリドーシス(若年及び成人型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000120
http://nanbyodata.jp/ontology/nanbyo#1000124 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000124" xsd:string
hasExactSynonym "Mucolipidosis Type II,III" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-19-201704-kojin.pdf
rdfs:label "ムコリピドーシスII型,III型" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000055
http://nanbyodata.jp/ontology/nanbyo#1000125 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000125" xsd:string
hasExactSynonym "Mucolipidosis Type II" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-19-201704-kojin.pdf
rdfs:label "ムコリピドーシスII型" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000124
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009650
http://nanbyodata.jp/ontology/nanbyo#1000126 (rdf:type owl:Class )
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has_notification_number "19" xsd:string
dcterms:identifier "1000126" xsd:string
hasExactSynonym "Mucolipidosis Type III" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-19-201704-kojin.pdf
rdfs:label "ムコリピドーシスIII型" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000124
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009651
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018931
http://nanbyodata.jp/ontology/nanbyo#1000127 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000127" xsd:string
hasExactSynonym "Alpha-mannosidosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-20-201704-kojin.pdf
rdfs:label "α-マンノシドーシス" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009561
http://nanbyodata.jp/ontology/nanbyo#1000128 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000128" xsd:string
hasExactSynonym "Alpha-mannosidosis, infantile form" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-20-201704-kojin.pdf
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017732
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has_notification_number "19" xsd:string
dcterms:identifier "1000129" xsd:string
hasExactSynonym "Alpha-mannosidosis, adult form" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-20-201704-kojin.pdf
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017733
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has_notification_number "19" xsd:string
dcterms:identifier "1000130" xsd:string
hasExactSynonym "Beta-mannosidosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-21-201704-kojin.pdf
rdfs:label "β-マンノシドーシス" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000055
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009562
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000131" xsd:string
hasExactSynonym "Fucosidosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-22-201704-kojin.pdf
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009254
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has_notification_number "19" xsd:string
dcterms:identifier "1000132" xsd:string
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rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-22-201704-kojin.pdf
rdfs:label "フコシドーシス(乳児型)" @ja
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000133" xsd:string
hasExactSynonym "Fucosidosis type 2" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-22-201704-kojin.pdf
rdfs:label "フコシドーシス(軽症型)" @ja
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http://nanbyodata.jp/ontology/nanbyo#1000134 (rdf:type owl:Class )
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has_notification_number "19" xsd:string
dcterms:identifier "1000134" xsd:string
hasExactSynonym "Aspartylglucosaminuria" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-23-201704-kojin.pdf
rdfs:label "アスパルチルグルコサミン尿症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000055
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008830
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has_notification_number "19" xsd:string
dcterms:identifier "1000135" xsd:string
hasExactSynonym "Schindler disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-24-201704-kojin.pdf
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rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000055
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017779
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has_notification_number "19" xsd:string
dcterms:identifier "1000136" xsd:string
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rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-24-201704-kojin.pdf
rdfs:label "Schindler病I型" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000135
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012221
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has_notification_number "19" xsd:string
dcterms:identifier "1000137" xsd:string
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hasExactSynonym "神崎病" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-24-201704-kojin.pdf
rdfs:label "Schindler病II型" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012222
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has_notification_number "19" xsd:string
dcterms:identifier "1000138" xsd:string
hasExactSynonym "Schindler disease type 3" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-24-201704-kojin.pdf
rdfs:label "Schindler病III型" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000135
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012221
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019264
http://nanbyodata.jp/ontology/nanbyo#1000139 (rdf:type owl:Class )
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has_notification_number "19" xsd:string
dcterms:identifier "1000139" xsd:string
hasExactSynonym "Pompe disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-25-201704-kojin.pdf
rdfs:label "Pompe病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000055
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009290
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has_notification_number "19" xsd:string
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hasExactSynonym "Classic infantile-onset Pompe disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-25-201704-kojin.pdf
rdfs:label "Pompe病(乳児型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000139
http://nanbyodata.jp/ontology/nanbyo#1000141 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000141" xsd:string
hasExactSynonym "Non-classic infantile-onset Pompe disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-25-201704-kojin.pdf
rdfs:label "Pompe病(小児型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000139
http://nanbyodata.jp/ontology/nanbyo#1000142 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
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hasExactSynonym "Late-onset Pompe disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-25-201704-kojin.pdf
rdfs:label "Pompe病(成人型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000139
http://nanbyodata.jp/ontology/nanbyo#1000143 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000143" xsd:string
hasExactSynonym "Lysosomal acid lipase deficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-26-201704-kojin.pdf
rdfs:label "酸性リパーゼ欠損症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000055
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010204
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019148
http://nanbyodata.jp/ontology/nanbyo#1000144 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000144" xsd:string
hasExactSynonym "Wolman disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-26-201704-kojin.pdf
rdfs:label "ウォルマン病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000143
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010204
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019148
http://nanbyodata.jp/ontology/nanbyo#1000145 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000145" xsd:string
hasExactSynonym "Cholesterol ester storage disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-26-201704-kojin.pdf
rdfs:label "コレステロールエステル蓄膿症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000143
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019149
http://nanbyodata.jp/ontology/nanbyo#1000146 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000146" xsd:string
hasExactSynonym "Danon disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-27-201704-kojin.pdf
rdfs:label "Danon病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000055
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010281
http://nanbyodata.jp/ontology/nanbyo#1000147 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000147" xsd:string
hasExactSynonym "Free sialic acid storage disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-28-201704-kojin.pdf
rdfs:label "遊離シアル酸蓄積症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000055
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019366
http://nanbyodata.jp/ontology/nanbyo#1000148 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000148" xsd:string
hasExactSynonym "Free sialic acid storage disease, infantile form" @en
hasExactSynonym "ISSD" @en
hasExactSynonym "infantile sialic acid storage disease" @en
hasExactSynonym "遊離シアル酸蓄積症(重症型)" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-28-201704-kojin.pdf
rdfs:label "遊離シアル酸蓄積症(乳児型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000147
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010027
http://nanbyodata.jp/ontology/nanbyo#1000149 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000149" xsd:string
hasExactSynonym "intermediate severe Salla disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-28-201704-kojin.pdf
rdfs:label "遊離シアル酸蓄積症(中間型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000147
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017737
http://nanbyodata.jp/ontology/nanbyo#1000150 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000150" xsd:string
hasExactSynonym "Salla disaese" @en
hasExactSynonym "遊離シアル酸蓄積症(軽症型)" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-28-201704-kojin.pdf
rdfs:label "サラ病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000147
http://nanbyodata.jp/ontology/nanbyo#1000151 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000151" xsd:string
hasExactSynonym "Neuronal Ceroid Lipofuscinosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-29-201704-kojin.pdf
rdfs:label "セロイドリポフスチノーシス" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000055
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016295
http://nanbyodata.jp/ontology/nanbyo#1000152 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000152" xsd:string
hasExactSynonym "Congenital neuronal ceroid lipofuscinosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-29-201704-kojin.pdf
rdfs:label "セロイドリポフスチノーシス(先天型)" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008956
http://nanbyodata.jp/ontology/nanbyo#1000153 (rdf:type owl:Class )
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has_notification_number "19" xsd:string
dcterms:identifier "1000153" xsd:string
hasExactSynonym "Infantile neuronal ceroid lipofuscinosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-29-201704-kojin.pdf
rdfs:label "セロイドリポフスチノーシス(乳児型)" @ja
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000154" xsd:string
hasExactSynonym "Late infantile neuronal ceroid lipofuscinosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-29-201704-kojin.pdf
rdfs:label "セロイドリポフスチノーシス(遅発乳児型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000151
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008769
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015674
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000155" xsd:string
hasExactSynonym "Juvenile neuronal ceroid lipofuscinosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-29-201704-kojin.pdf
rdfs:label "セロイドリポフスチノーシス(若年型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000151
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008767
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019262
http://nanbyodata.jp/ontology/nanbyo#1000156 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000156" xsd:string
hasExactSynonym "Adult neuronal ceroid lipofuscinosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-29-201704-kojin.pdf
rdfs:label "セロイドリポフスチノーシス(成人型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000151
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019260
http://nanbyodata.jp/ontology/nanbyo#1000157 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000157" xsd:string
hasExactSynonym "Atypical neuronal ceroid-lipofuscinosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-29-201704-kojin.pdf
rdfs:label "セロイドリポフスチノーシス(非定型型)" @ja
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http://nanbyodata.jp/ontology/nanbyo#1000158 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000158" xsd:string
hasExactSynonym "Fabry disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-30-201704-kojin.pdf
rdfs:label "Fabry病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000055
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010526
http://nanbyodata.jp/ontology/nanbyo#1000159 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000159" xsd:string
hasExactSynonym "classic Fabry disease" @en
hasExactSynonym "type 1 Fabry disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-30-201704-kojin.pdf
rdfs:label "Fabry病(古典型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000158
http://nanbyodata.jp/ontology/nanbyo#1000160 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000160" xsd:string
hasExactSynonym "late onset Fabry disease" @en
hasExactSynonym "type 2 Fabry disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-30-201704-kojin.pdf
rdfs:label "Fabry病(亜型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000158
http://nanbyodata.jp/ontology/nanbyo#1000161 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000161" xsd:string
hasExactSynonym "heterozygous Fabry disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-30-201704-kojin.pdf
rdfs:label "Fabry病(顕性ヘテロ接合体)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000158
http://nanbyodata.jp/ontology/nanbyo#1000162 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000162" xsd:string
hasExactSynonym "Cystinosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-31-201704-kojin.pdf
rdfs:label "シスチン症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000055
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016239
http://nanbyodata.jp/ontology/nanbyo#1000163 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000163" xsd:string
hasExactSynonym "Nephropathic infantile cystinosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-31-201704-kojin.pdf
rdfs:label "シスチン症(腎型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000162
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018467
http://nanbyodata.jp/ontology/nanbyo#1000164 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000164" xsd:string
hasExactSynonym "Juvenile nephropathic cystinosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-31-201704-kojin.pdf
rdfs:label "シスチン症(中間型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000162
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009066
http://nanbyodata.jp/ontology/nanbyo#1000165 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "19" xsd:string
dcterms:identifier "1000165" xsd:string
hasExactSynonym "Ocular cystinosis" @en
hasExactSynonym "シスチン症(眼型)" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/019-31-201704-kojin.pdf
rdfs:label "シスチン症(非腎型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000162
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009064
http://nanbyodata.jp/ontology/nanbyo#1000166 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "20" xsd:string
dcterms:identifier "1000166" xsd:string
hasExactSynonym "Adrenoleukodystrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/020-201704-kojin.pdf
rdfs:label "副腎白質ジストロフィー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010247
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018544
http://nanbyodata.jp/ontology/nanbyo#1000167 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "20" xsd:string
dcterms:identifier "1000167" xsd:string
hasExactSynonym "Childhood X-linked Adrenoleukodystrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/020-201704-kojin.pdf
rdfs:label "副腎白質ジストロフィー(小児大脳型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000166
http://nanbyodata.jp/ontology/nanbyo#1000168 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "20" xsd:string
dcterms:identifier "1000168" xsd:string
hasExactSynonym "Adolescent-onset X-linked Adrenoleukodystrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/020-201704-kojin.pdf
rdfs:label "副腎白質ジストロフィー(思春期大脳型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000166
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "20" xsd:string
dcterms:identifier "1000169" xsd:string
hasExactSynonym "AMN" @ja
hasExactSynonym "adrenomyeloneuropathy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/020-201704-kojin.pdf
rdfs:label "副腎白質ジストロフィー(副腎脊髄ニューロパチー)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000166
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010247
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015339
http://nanbyodata.jp/ontology/nanbyo#1000170 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "20" xsd:string
dcterms:identifier "1000170" xsd:string
hasExactSynonym "Adult-onset adrenoleukodystrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/020-201704-kojin.pdf
rdfs:label "副腎白質ジストロフィー(成人大脳型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000166
http://nanbyodata.jp/ontology/nanbyo#1000171 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "20" xsd:string
dcterms:identifier "1000171" xsd:string
hasExactSynonym "Atypical X-linked adult adrenoleukodystrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/020-201704-kojin.pdf
rdfs:label "副腎白質ジストロフィー(小脳・脳幹型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000166
http://nanbyodata.jp/ontology/nanbyo#1000172 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "20" xsd:string
dcterms:identifier "1000172" xsd:string
hasExactSynonym "Addison's Disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/020-201704-kojin.pdf
rdfs:label "副腎白質ジストロフィー(アジソン型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000166
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009410
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015129
http://nanbyodata.jp/ontology/nanbyo#1000173 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "20" xsd:string
dcterms:identifier "1000173" xsd:string
hasExactSynonym "female adrenoleukodystrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/020-201704-kojin.pdf
rdfs:label "副腎白質ジストロフィー(女性発症者)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000166
http://nanbyodata.jp/ontology/nanbyo#1000174 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "21" xsd:string
dcterms:identifier "1000174" xsd:string
hasExactSynonym "Mitochondrial disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/021-201704-kojin.pdf
rdfs:label "ミトコンドリア病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0004069
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0044970
http://nanbyodata.jp/ontology/nanbyo#1000175 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "21" xsd:string
dcterms:identifier "1000175" xsd:string
hasExactSynonym "chronic progressive external ophthalmoplegia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/021-201704-kojin.pdf
rdfs:label "慢性進行性外眼筋麻痺症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000174
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005181
http://nanbyodata.jp/ontology/nanbyo#1000176 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "21" xsd:string
dcterms:identifier "1000176" xsd:string
hasExactSynonym "Leigh syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/021-201704-kojin.pdf
rdfs:label "リー脳症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000174
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009723
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018859
http://nanbyodata.jp/ontology/nanbyo#1000177 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "21" xsd:string
dcterms:identifier "1000177" xsd:string
hasExactSynonym "MELAS" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/021-201704-kojin.pdf
rdfs:label "ミトコンドリア脳筋症・乳酸アシドーシス・脳卒中様発作症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000174
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010789
http://nanbyodata.jp/ontology/nanbyo#1000178 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "21" xsd:string
dcterms:identifier "1000178" xsd:string
hasExactSynonym "MERRF" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/021-201704-kojin.pdf
rdfs:label "ミトコンドリア異常を伴うミオクローヌスてんかん" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000174
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010790
http://nanbyodata.jp/ontology/nanbyo#1000179 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "21" xsd:string
dcterms:identifier "1000179" xsd:string
hasExactSynonym "Leber hereditary optic neuropathy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/021-201704-kojin.pdf
rdfs:label "レーバー病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000174
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010788
http://nanbyodata.jp/ontology/nanbyo#1000180 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "21" xsd:string
dcterms:identifier "1000180" xsd:string
hasExactSynonym "" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/021-201704-kojin.pdf
rdfs:label "生化学的異常が明らかになったミトコンドリア病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000174
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
http://nanbyodata.jp/ontology/nanbyo#1000181 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "21" xsd:string
dcterms:identifier "1000181" xsd:string
hasExactSynonym "Mitochondrial complex I deficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/021-201704-kojin.pdf
rdfs:label "複合体Ⅰ欠損症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000180
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009640
http://nanbyodata.jp/ontology/nanbyo#1000182 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "21" xsd:string
dcterms:identifier "1000182" xsd:string
hasExactSynonym "Mitochondrial complex II deficiency" @en
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rdfs:label "複合体Ⅱ欠損症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009641
http://nanbyodata.jp/ontology/nanbyo#1000183 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "21" xsd:string
dcterms:identifier "1000183" xsd:string
hasExactSynonym "" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/021-201704-kojin.pdf
rdfs:label "原因不明な高乳酸血症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000174
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
http://nanbyodata.jp/ontology/nanbyo#1000184 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "22" xsd:string
dcterms:identifier "1000184" xsd:string
hasExactSynonym "Moyamoya disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/022-201704-kojin.pdf
rdfs:label "もやもや病" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009649
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016820
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018792
http://nanbyodata.jp/ontology/nanbyo#1000185 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "22" xsd:string
dcterms:identifier "1000185" xsd:string
hasExactSynonym "bilateral moyamoya disease" @en
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rdfs:label "もやもや病(両側型)" @ja
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http://nanbyodata.jp/ontology/nanbyo#1000186 (rdf:type owl:Class )
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has_notification_number "22" xsd:string
dcterms:identifier "1000186" xsd:string
hasExactSynonym "unilateral moyamoya disease" @en
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rdfs:label "もやもや病(片側型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000184
http://nanbyodata.jp/ontology/nanbyo#1000187 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "23" xsd:string
dcterms:identifier "1000187" xsd:string
hasExactSynonym "Prion disease" @en
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rdfs:label "プリオン病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005429
http://nanbyodata.jp/ontology/nanbyo#1000188 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "23" xsd:string
dcterms:identifier "1000188" xsd:string
hasExactSynonym "Sporadic Creutzfeldt-Jakob disease" @en
hasExactSynonym "sCJD" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/023-201704-kojin.pdf
rdfs:label "孤発性クロイツフェルト・ヤコブ病" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016079
http://nanbyodata.jp/ontology/nanbyo#1000189 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "23" xsd:string
dcterms:identifier "1000189" xsd:string
hasExactSynonym "Genetic Prion Diseases" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/023-201704-kojin.pdf
rdfs:label "遺伝性プリオン病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000187
http://nanbyodata.jp/ontology/nanbyo#1000190 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "23" xsd:string
dcterms:identifier "1000190" xsd:string
hasExactSynonym "Familial Creutzfeldt-Jakob Disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/023-201704-kojin.pdf
rdfs:label "家族性CJD" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000189
http://nanbyodata.jp/ontology/nanbyo#1000191 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "23" xsd:string
dcterms:identifier "1000191" xsd:string
hasExactSynonym "GSS" @en
hasExactSynonym "Gerstmann-Straussler-Scheinker syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/023-201704-kojin.pdf
rdfs:label "ゲルストマン・ストロイスラー・シャインカー病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000189
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007656
http://nanbyodata.jp/ontology/nanbyo#1000192 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "23" xsd:string
dcterms:identifier "1000192" xsd:string
hasExactSynonym "FFI" @en
hasExactSynonym "fatal familial insomnia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/023-201704-kojin.pdf
rdfs:label "致死性家族性不眠症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000189
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010808
http://nanbyodata.jp/ontology/nanbyo#1000193 (rdf:type owl:Class )
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has_notification_number "23" xsd:string
dcterms:identifier "1000193" xsd:string
hasExactSynonym "Acquired Creutzfeldt-Jakob disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/023-201704-kojin.pdf
rdfs:label "獲得性クロイツフェルト・ヤコブ病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000187
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018686
http://nanbyodata.jp/ontology/nanbyo#1000194 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "23" xsd:string
dcterms:identifier "1000194" xsd:string
hasExactSynonym "Iatrogenic Creutzfeldt-Jakob disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/023-201704-kojin.pdf
rdfs:label "医原性クロイツフェルト・ヤコブ病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000193
http://nanbyodata.jp/ontology/nanbyo#1000195 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "23" xsd:string
dcterms:identifier "1000195" xsd:string
hasExactSynonym "vCJD" @en
hasExactSynonym "variant Creutzfeldt-Jakob disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/023-201704-kojin.pdf
rdfs:label "変異型クロイツフェルトヤコブ病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000193
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007012
http://nanbyodata.jp/ontology/nanbyo#1000196 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "24" xsd:string
dcterms:identifier "1000196" xsd:string
hasExactSynonym "Subacute sclerosing panencephalitis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/024-201804-kojin.pdf
rdfs:label "亜急性硬化性全脳炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009835
http://nanbyodata.jp/ontology/nanbyo#1000197 (rdf:type owl:Class )
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has_notification_number "24" xsd:string
dcterms:identifier "1000197" xsd:string
hasExactSynonym "" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/024-201804-kojin.pdf
rdfs:label "亜急性硬化性全脳炎(典型)" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
http://nanbyodata.jp/ontology/nanbyo#1000198 (rdf:type owl:Class )
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has_notification_number "24" xsd:string
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hasExactSynonym "" @en
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rdfs:label "急速進行型" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
http://nanbyodata.jp/ontology/nanbyo#1000199 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
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hasExactSynonym "" @en
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rdfs:label "亜急性進行型" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
http://nanbyodata.jp/ontology/nanbyo#1000200 (rdf:type owl:Class )
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dcterms:identifier "1000200" xsd:string
hasExactSynonym "" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/024-201804-kojin.pdf
rdfs:label "緩徐進行型" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
http://nanbyodata.jp/ontology/nanbyo#1000201 (rdf:type owl:Class )
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has_notification_number "24" xsd:string
dcterms:identifier "1000201" xsd:string
hasExactSynonym "" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/024-201804-kojin.pdf
rdfs:label "慢性再発−寛解型" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000197
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
http://nanbyodata.jp/ontology/nanbyo#1000202 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "24" xsd:string
dcterms:identifier "1000202" xsd:string
hasExactSynonym "Atypical subacute sclerosing panencephalitis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/024-201804-kojin.pdf
rdfs:label "亜急性硬化性全脳炎(非典型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000196
http://nanbyodata.jp/ontology/nanbyo#1000203 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "24" xsd:string
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hasExactSynonym "" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/024-201804-kojin.pdf
rdfs:label "症状が痙攣のみの例" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000202
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
http://nanbyodata.jp/ontology/nanbyo#1000204 (rdf:type owl:Class )
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has_notification_number "24" xsd:string
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hasExactSynonym "" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/024-201804-kojin.pdf
rdfs:label "Jabbour 分類の I 期が 遷延する例" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000202
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
http://nanbyodata.jp/ontology/nanbyo#1000205 (rdf:type owl:Class )
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has_notification_number "24" xsd:string
dcterms:identifier "1000205" xsd:string
hasExactSynonym "" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/024-201804-kojin.pdf
rdfs:label "乳児あるいは成人例" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000202
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
http://nanbyodata.jp/ontology/nanbyo#1000206 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "25" xsd:string
dcterms:identifier "1000206" xsd:string
hasExactSynonym "Progressive multifocal leukoencephalopathy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/025-201704-kojin.pdf
rdfs:label "進行性多巣性白質脳症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016318
http://nanbyodata.jp/ontology/nanbyo#1000207 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "26" xsd:string
dcterms:identifier "1000207" xsd:string
hasExactSynonym "HTLV-1-associated Myelopathy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/026-201704-kojin.pdf
rdfs:label "HTLV-1関連脊髄症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000208 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "27" xsd:string
dcterms:identifier "1000208" xsd:string
hasExactSynonym "Idiopathic basal ganglia calcification" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/027-201704-kojin.pdf
rdfs:label "特発性基底核石灰化症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000209 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "27" xsd:string
dcterms:identifier "1000209" xsd:string
hasExactSynonym "Idiopathic basal ganglia calcification" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/027-201704-kojin.pdf
rdfs:label "特発性基底核石灰化症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000208
http://nanbyodata.jp/ontology/nanbyo#1000210 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "27" xsd:string
dcterms:identifier "1000210" xsd:string
hasExactSynonym "Familial idiopathic basal ganglia calcification" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/027-201704-kojin.pdf
rdfs:label "家族性特発性基底核石灰化症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000208
http://nanbyodata.jp/ontology/nanbyo#1000211 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "28" xsd:string
dcterms:identifier "1000211" xsd:string
hasExactSynonym "Systemic amyloidosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/028-201704-kojin.pdf
rdfs:label "全身性アミロイドーシス" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017816
http://nanbyodata.jp/ontology/nanbyo#1000212 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "28" xsd:string
dcterms:identifier "1000212" xsd:string
hasExactSynonym "" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/028-201704-kojin.pdf
rdfs:label "免疫グロブリン性アミロイドーシス;老人性トランスサイレチン型(TTR)アミロイドーシス;反応性AAアミロイドーシス" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
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has_notification_number "28" xsd:string
dcterms:identifier "1000213" xsd:string
hasExactSynonym "AL amyloidosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/028-201704-kojin.pdf
rdfs:label "免疫グロブリン性アミロイドーシス" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000212
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009693
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019438
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "28" xsd:string
dcterms:identifier "1000214" xsd:string
hasExactSynonym "SSA" @en
hasExactSynonym "senile systemic amyloidosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/028-201704-kojin.pdf
rdfs:label "老人性トランスサイレチン型アミロイドーシス" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000212
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018018
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "28" xsd:string
dcterms:identifier "1000215" xsd:string
hasExactSynonym "Reactive AA amyloidosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/028-201704-kojin.pdf
rdfs:label "反応性AAアミロイドーシス" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000212
http://nanbyodata.jp/ontology/nanbyo#1000216 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "28" xsd:string
dcterms:identifier "1000216" xsd:string
hasExactSynonym "Familial amyloid polyneuropathy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/028-201704-kojin.pdf
rdfs:label "家族性アミロイドニューロパチー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000211
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007100
http://nanbyodata.jp/ontology/nanbyo#1000217 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "29" xsd:string
dcterms:identifier "1000217" xsd:string
hasExactSynonym "Ullrich disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/029-201704-kojin.pdf
rdfs:label "ウルリッヒ病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000355
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009681
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "30" xsd:string
dcterms:identifier "1000218" xsd:string
hasExactSynonym "Distal myopathy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/030-201704-kojin.pdf
rdfs:label "遠位型ミオパチー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018949
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "30" xsd:string
dcterms:identifier "1000219" xsd:string
hasExactSynonym "Miyoshi myopathy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/030-201704-kojin.pdf
rdfs:label "三好型ミオパチー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000218
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009685
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0024545
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "30" xsd:string
dcterms:identifier "1000220" xsd:string
hasExactSynonym "Distal myopathy with rimmed vacuoles" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/030-201704-kojin.pdf
rdfs:label "縁取り空胞を伴う遠位型ミオパチー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000218
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007827
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011603
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "30" xsd:string
dcterms:identifier "1000221" xsd:string
hasExactSynonym "Oculopharyngodistal myopathy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/030-201704-kojin.pdf
rdfs:label "眼咽頭遠位型ミオパチー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000218
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008117
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "31" xsd:string
dcterms:identifier "1000222" xsd:string
hasExactSynonym "Bethlem myopathy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/031-201704-kojin.pdf
rdfs:label "ベスレムミオパチー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008029
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0024530
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "32" xsd:string
dcterms:identifier "1000223" xsd:string
hasExactSynonym "Autophagic vacuolar myopathy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/032-201704-kojin.pdf
rdfs:label "自己貪食空胞性ミオパチー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000224 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "32" xsd:string
dcterms:identifier "1000224" xsd:string
hasExactSynonym "Danon disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/032-201704-kojin.pdf
rdfs:label "Danon病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000223
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010281
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "32" xsd:string
dcterms:identifier "1000225" xsd:string
hasExactSynonym "X-linked Myopathy with excessive autophagy" @en
hasExactSynonym "XMEA" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/032-201704-kojin.pdf
rdfs:label "過剰自己貪食を伴うX連鎖性ミオパチー" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010684
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "33" xsd:string
dcterms:identifier "1000226" xsd:string
hasExactSynonym "Schwartz-Jampel syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/033-201704-kojin.pdf
rdfs:label "シュワルツ・ヤンペル症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009717
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "34" xsd:string
dcterms:identifier "1000227" xsd:string
hasExactSynonym "Neurofibromatosis" @en
rdfs:isDefinedBy file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl
rdfs:label "神経線維腫症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018975
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0021061
http://nanbyodata.jp/ontology/nanbyo#1000228 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "34" xsd:string
dcterms:identifier "1000228" xsd:string
hasExactSynonym "Neurofibromatosis Type 1" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/034-01-201704-kojin.pdf
rdfs:label "神経線維腫症Ⅰ型" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000227
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018975
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0021061
http://nanbyodata.jp/ontology/nanbyo#1000229 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "34" xsd:string
dcterms:identifier "1000229" xsd:string
hasExactSynonym "Neurofibromatosis Type 2" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/034-02-201704-kojin.pdf
rdfs:label "神経線維腫症Ⅱ型" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000227
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007039
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0021061
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "35" xsd:string
dcterms:identifier "1000230" xsd:string
hasExactSynonym "Pemphigus" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/035-201704-kojin.pdf
rdfs:label "天疱瘡" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0006594
http://nanbyodata.jp/ontology/nanbyo#1000231 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "35" xsd:string
dcterms:identifier "1000231" xsd:string
hasExactSynonym "" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/035-201704-kojin.pdf
rdfs:label "天疱瘡(尋常性)" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "35" xsd:string
dcterms:identifier "1000232" xsd:string
hasExactSynonym "pemphigus foliaceus" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/035-201704-kojin.pdf
rdfs:label "天疱瘡(落葉状)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000230
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019324
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "35" xsd:string
dcterms:identifier "1000233" xsd:string
hasExactSynonym "Paraneoplastic pemphigus" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/035-201704-kojin.pdf
rdfs:label "天疱瘡(腫瘍随伴性)" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018974
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "35" xsd:string
dcterms:identifier "1000234" xsd:string
hasExactSynonym "pemphigus vegetans" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/035-201704-kojin.pdf
rdfs:label "天疱瘡(増殖性)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000230
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019322
http://nanbyodata.jp/ontology/nanbyo#1000235 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "35" xsd:string
dcterms:identifier "1000235" xsd:string
hasExactSynonym "Pemphigus erythematosus" @en
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rdfs:label "天疱瘡(紅斑性)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000230
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019323
http://nanbyodata.jp/ontology/nanbyo#1000236 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "36" xsd:string
dcterms:identifier "1000236" xsd:string
hasExactSynonym "Epidermolysis bullosa" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/036-201704-kojin.pdf
rdfs:label "表皮水疱症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0006541
http://nanbyodata.jp/ontology/nanbyo#1000237 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "36" xsd:string
dcterms:identifier "1000237" xsd:string
hasExactSynonym "Epidermolysis bullosa simplex" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/036-201704-kojin.pdf
rdfs:label "表皮水疱症(単純型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000236
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017610
http://nanbyodata.jp/ontology/nanbyo#1000238 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "36" xsd:string
dcterms:identifier "1000238" xsd:string
hasExactSynonym "Junctional epidermolysis bullosa" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/036-201704-kojin.pdf
rdfs:label "表皮水疱症(接合部型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000236
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017612
http://nanbyodata.jp/ontology/nanbyo#1000239 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "36" xsd:string
dcterms:identifier "1000239" xsd:string
hasExactSynonym "Dominant dystrophic epidermolysis bullosa" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/036-201704-kojin.pdf
rdfs:label "表皮水疱症(優性栄養障害型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000236
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007549
http://nanbyodata.jp/ontology/nanbyo#1000240 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "36" xsd:string
dcterms:identifier "1000240" xsd:string
hasExactSynonym "Recessive dystrophic epidermolysis bullosa" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/036-201704-kojin.pdf
rdfs:label "表皮水疱症(劣性栄養障害型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000236
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009179
http://nanbyodata.jp/ontology/nanbyo#1000241 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "36" xsd:string
dcterms:identifier "1000241" xsd:string
hasExactSynonym "Kindler syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/036-201704-kojin.pdf
rdfs:label "表皮水疱症(キンドラー症候群)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000236
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008260
http://nanbyodata.jp/ontology/nanbyo#1000242 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "37" xsd:string
dcterms:identifier "1000242" xsd:string
hasExactSynonym "Generalized Pustular Psoriasis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/037-201704-kojin.pdf
rdfs:label "膿疱性乾癬(汎発型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0013626
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016597
http://nanbyodata.jp/ontology/nanbyo#1000243 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "37" xsd:string
dcterms:identifier "1000243" xsd:string
hasExactSynonym "Acute generalized pustular psoriasis" @en
hasExactSynonym "Acute generalized pustular psoriasis, von Zumbusch type" @en
hasExactSynonym "von Zumbusch 型" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/037-201704-kojin.pdf
rdfs:label "急性汎発性膿疱性乾癬" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000242
http://nanbyodata.jp/ontology/nanbyo#1000244 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "37" xsd:string
dcterms:identifier "1000244" xsd:string
hasExactSynonym "Infantile generalized pustular psoriasis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/037-201704-kojin.pdf
rdfs:label "小児汎発性膿疱性乾癬" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000242
http://nanbyodata.jp/ontology/nanbyo#1000245 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "37" xsd:string
dcterms:identifier "1000245" xsd:string
hasExactSynonym "Impetigo Herpesformis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/037-201704-kojin.pdf
rdfs:label "疱疹状膿痂疹" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000242
http://nanbyodata.jp/ontology/nanbyo#1000246 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "37" xsd:string
dcterms:identifier "1000246" xsd:string
hasExactSynonym "Acrodermatitis Continua of Hallopeau" @en
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rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/037-201704-kojin.pdf
rdfs:label "稽留性肢端皮膚炎の汎発化" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000242
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0013626
http://nanbyodata.jp/ontology/nanbyo#1000247 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "38" xsd:string
dcterms:identifier "1000247" xsd:string
hasExactSynonym "Stevens-Johnson syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/038-201804-kojin.pdf
rdfs:label "スティーヴンス・ジョンソン症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018229
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has_notification_number "39" xsd:string
dcterms:identifier "1000248" xsd:string
hasExactSynonym "Toxic epidermal necrolysis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/039-201704-kojin.pdf
rdfs:label "中毒性表皮壊死症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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http://nanbyodata.jp/ontology/nanbyo#1000249 (rdf:type owl:Class )
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has_notification_number "39" xsd:string
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hasExactSynonym "TEN without maclues" @en
hasExactSynonym "toxic epidermal necrolysis with spots" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/039-201704-kojin.pdf
rdfs:label "中毒性表皮壊死症(SJS進展型)" @ja
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has_notification_number "39" xsd:string
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hasExactSynonym "TEN on large erythema " @en
hasExactSynonym "toxic epidermal necrolysis without spots" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/039-201704-kojin.pdf
rdfs:label "中毒性表皮壊死症(びまん性紅班進展型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000248
http://nanbyodata.jp/ontology/nanbyo#1000251 (rdf:type owl:Class )
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has_notification_number "39" xsd:string
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hasExactSynonym "" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/039-201704-kojin.pdf
rdfs:label "中毒性表皮壊死症(特殊型)" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
http://nanbyodata.jp/ontology/nanbyo#1000252 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "39" xsd:string
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hasExactSynonym "" @en
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rdfs:label "中毒性表皮壊死症(不全型)" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "40" xsd:string
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hasExactSynonym "Aortitis syndrome" @en
hasExactSynonym "Takayasu arteritis" @en
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rdfs:label "高安動脈炎" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0006656
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017991
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "40" xsd:string
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hasExactSynonym "Type I Takayasu arteritis" @en
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rdfs:label "高安動脈炎(Ⅰ型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000253
http://nanbyodata.jp/ontology/nanbyo#1000255 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "40" xsd:string
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hasExactSynonym "Type Ⅱa Takayasu arteritis" @en
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rdfs:label "高安動脈炎(Ⅱa型)" @ja
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http://nanbyodata.jp/ontology/nanbyo#1000256 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "40" xsd:string
dcterms:identifier "1000256" xsd:string
hasExactSynonym "Type Ⅱb Takayasu arteritis" @en
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rdfs:label "高安動脈炎(Ⅱb型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000253
http://nanbyodata.jp/ontology/nanbyo#1000257 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "40" xsd:string
dcterms:identifier "1000257" xsd:string
hasExactSynonym "Type Ⅲ Takayasu arteritis" @en
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rdfs:label "高安動脈炎(Ⅲ型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000253
http://nanbyodata.jp/ontology/nanbyo#1000258 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "40" xsd:string
dcterms:identifier "1000258" xsd:string
hasExactSynonym "Type Ⅳ Takayasu arteritis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/040-201804-kojin.pdf
rdfs:label "高安動脈炎(Ⅳ型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000253
http://nanbyodata.jp/ontology/nanbyo#1000259 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "40" xsd:string
dcterms:identifier "1000259" xsd:string
hasExactSynonym "Type Ⅴ Takayasu arteritis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/040-201804-kojin.pdf
rdfs:label "高安動脈炎(Ⅴ型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000253
http://nanbyodata.jp/ontology/nanbyo#1000260 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "41" xsd:string
dcterms:identifier "1000260" xsd:string
hasExactSynonym "Giant cell arteritis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/041-201704-kojin.pdf
rdfs:label "巨細胞性動脈炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008538
http://nanbyodata.jp/ontology/nanbyo#1000261 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "41" xsd:string
dcterms:identifier "1000261" xsd:string
hasExactSynonym "" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/041-201704-kojin.pdf
rdfs:label "巨細胞性動脈炎(側頭動脈・顎動脈・眼動脈などの頭蓋領域の動脈に限局)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000260
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
http://nanbyodata.jp/ontology/nanbyo#1000262 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "41" xsd:string
dcterms:identifier "1000262" xsd:string
hasExactSynonym "" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/041-201704-kojin.pdf
rdfs:label "巨細胞性動脈炎(頭蓋領域の動脈に限局せず大動脈・総頸動脈・鎖骨下動脈などにも分布)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000260
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
http://nanbyodata.jp/ontology/nanbyo#1000263 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "42" xsd:string
dcterms:identifier "1000263" xsd:string
hasExactSynonym "Polyarteritis nodosa" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/042-201704-kojin.pdf
rdfs:label "結節性多発動脈炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019170
http://nanbyodata.jp/ontology/nanbyo#1000264 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "43" xsd:string
dcterms:identifier "1000264" xsd:string
hasExactSynonym "Microscopic polyangiitis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/043-201704-kojin.pdf
rdfs:label "顕微鏡的多発血管炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019124
http://nanbyodata.jp/ontology/nanbyo#1000265 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "44" xsd:string
dcterms:identifier "1000265" xsd:string
hasExactSynonym "Wegeners granulomatosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/044-201704-kojin.pdf
rdfs:label "多発血管炎性肉芽腫症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000266 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "45" xsd:string
dcterms:identifier "1000266" xsd:string
hasExactSynonym "Eosinophilic Granulomatosis with Polyangiitis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/045-201704-kojin.pdf
rdfs:label "好酸球性多発血管炎性肉芽腫症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015943
http://nanbyodata.jp/ontology/nanbyo#1000267 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "46" xsd:string
dcterms:identifier "1000267" xsd:string
hasExactSynonym "Rheumatoid arthritis with vasculitis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/046-201704-kojin.pdf
rdfs:label "悪性関節リウマチ" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000268 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "47" xsd:string
dcterms:identifier "1000268" xsd:string
hasExactSynonym "Thromboangiitis obliterans" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/047-201704-kojin.pdf
rdfs:label "バージャー病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008889
http://nanbyodata.jp/ontology/nanbyo#1000269 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "48" xsd:string
dcterms:identifier "1000269" xsd:string
hasExactSynonym "Antiphospholipid syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/048-201704-kojin.pdf
rdfs:label "原発性抗リン脂質抗体症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007140
http://nanbyodata.jp/ontology/nanbyo#1000270 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "48" xsd:string
dcterms:identifier "1000270" xsd:string
hasExactSynonym "Thrombotic Antiphospholipid Syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/048-201704-kojin.pdf
rdfs:label "動静脈血栓症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000269
http://nanbyodata.jp/ontology/nanbyo#1000271 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "48" xsd:string
dcterms:identifier "1000271" xsd:string
hasExactSynonym "Antiphospholipid Syndrome and Pregnancy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/048-201704-kojin.pdf
rdfs:label "妊娠合併症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000269
http://nanbyodata.jp/ontology/nanbyo#1000272 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "48" xsd:string
dcterms:identifier "1000272" xsd:string
hasExactSynonym "Catastrophic antiphospholipid syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/048-201704-kojin.pdf
rdfs:label "劇症型" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000269
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018737
http://nanbyodata.jp/ontology/nanbyo#1000273 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "48" xsd:string
dcterms:identifier "1000273" xsd:string
hasExactSynonym "" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/048-201704-kojin.pdf
rdfs:label "抗リン脂質抗体関連疾患" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000269
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
http://nanbyodata.jp/ontology/nanbyo#1000274 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "49" xsd:string
dcterms:identifier "1000274" xsd:string
hasExactSynonym "Systemic lupus erythematosus" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/049-201804-kojin.pdf
rdfs:label "全身性エリテマトーデス" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007915
http://nanbyodata.jp/ontology/nanbyo#1000275 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "50" xsd:string
dcterms:identifier "1000275" xsd:string
hasExactSynonym "Dermatomyositis/Polymyositis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/050-201704-kojin.pdf
rdfs:label "皮膚筋炎/多発性筋炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000276 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "50" xsd:string
dcterms:identifier "1000276" xsd:string
hasExactSynonym "Dermatomyositis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/050-201704-kojin.pdf
rdfs:label "皮膚筋炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000275
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016367
http://nanbyodata.jp/ontology/nanbyo#1000277 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "50" xsd:string
dcterms:identifier "1000277" xsd:string
hasExactSynonym "amyopathic dermatomyositis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/050-201704-kojin.pdf
rdfs:label "無筋症性皮膚筋炎" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016367
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0043317
http://nanbyodata.jp/ontology/nanbyo#1000278 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "50" xsd:string
dcterms:identifier "1000278" xsd:string
hasExactSynonym "Polymyositis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/050-201704-kojin.pdf
rdfs:label "多発性筋炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000275
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019127
http://nanbyodata.jp/ontology/nanbyo#1000279 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "51" xsd:string
dcterms:identifier "1000279" xsd:string
hasExactSynonym "Systemic scleroderma" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/051-201704-kojin.pdf
rdfs:label "全身性強皮症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005100
http://nanbyodata.jp/ontology/nanbyo#1000280 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "52" xsd:string
dcterms:identifier "1000280" xsd:string
hasExactSynonym "Mixed connective tissue disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/052-201704-kojin.pdf
rdfs:label "混合性結合組織病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005854
http://nanbyodata.jp/ontology/nanbyo#1000281 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "53" xsd:string
dcterms:identifier "1000281" xsd:string
hasExactSynonym "Sjogren syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/053-201704-kojin.pdf
rdfs:label "シェーグレン症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010030
http://nanbyodata.jp/ontology/nanbyo#1000282 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "53" xsd:string
dcterms:identifier "1000282" xsd:string
hasExactSynonym "Primary Sjogren syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/053-201704-kojin.pdf
rdfs:label "一次性シェーグレン症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000281
http://nanbyodata.jp/ontology/nanbyo#1000283 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "53" xsd:string
dcterms:identifier "1000283" xsd:string
hasExactSynonym "Secondary Sjogren Syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/053-201704-kojin.pdf
rdfs:label "二次性シェーグレン症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000281
http://nanbyodata.jp/ontology/nanbyo#1000284 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "54" xsd:string
dcterms:identifier "1000284" xsd:string
hasExactSynonym "Adult still disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/054-201704-kojin.pdf
rdfs:label "成人スチル病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019355
http://nanbyodata.jp/ontology/nanbyo#1000285 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "55" xsd:string
dcterms:identifier "1000285" xsd:string
hasExactSynonym "Relapsing polychondritis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/055-201704-kojin.pdf
rdfs:label "再発性多発軟骨炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019125
http://nanbyodata.jp/ontology/nanbyo#1000286 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "56" xsd:string
dcterms:identifier "1000286" xsd:string
hasExactSynonym "Behcet disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/056-201704-kojin.pdf
rdfs:label "ベーチェット病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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http://nanbyodata.jp/ontology/nanbyo#1000287 (rdf:type owl:Class )
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hasExactSynonym "apical hypertrophic cardiomyopathy" @en
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hasExactSynonym "Aplastic anemia" @en
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hasExactSynonym "Idiopathic aplastic anemia" @en
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hasExactSynonym "Secondary aplastic anemia" @en
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hasExactSynonym "Hepatitis-Associated Aplastic Anemia" @en
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hasExactSynonym "aplastic anaemia--paroxysmal nocturnal haemoglobinuria syndrome" @en
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
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hasExactSynonym "Congenital aplastic anemia" @en
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has_notification_number "60" xsd:string
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hasExactSynonym "fanconi anemia" @en
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009215
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has_notification_number "60" xsd:string
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hasExactSynonym "dyskeratosis congenita" @en
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015780
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "61" xsd:string
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hasExactSynonym "Autoimmune hemolytic anemia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/061-201704-kojin.pdf
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020108
http://nanbyodata.jp/ontology/nanbyo#1000308 (rdf:type owl:Class )
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has_notification_number "61" xsd:string
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hasExactSynonym "Warm autoimmune hemolytic anemia" @en
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http://nanbyodata.jp/ontology/nanbyo#1000309 (rdf:type owl:Class )
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has_notification_number "61" xsd:string
dcterms:identifier "1000309" xsd:string
hasExactSynonym "cold agglutinin disease" @en
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018922
http://nanbyodata.jp/ontology/nanbyo#1000310 (rdf:type owl:Class )
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has_notification_number "61" xsd:string
dcterms:identifier "1000310" xsd:string
hasExactSynonym "paroxysmal cold haemoglobinuria" @en
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rdfs:label "寒冷ヘモグロビン尿症" @ja
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http://nanbyodata.jp/ontology/nanbyo#1000311 (rdf:type owl:Class )
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has_notification_number "61" xsd:string
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hasExactSynonym "Mixed-type autoimmune hemolytic anemia" @en
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rdfs:label "混合型" @ja
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has_notification_number "61" xsd:string
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hasExactSynonym "Evans syndrome" @en
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has_notification_number "62" xsd:string
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hasExactSynonym "Paroxysmal nocturnal hemoglobinuria" @en
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018641
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has_notification_number "62" xsd:string
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hasExactSynonym "Classical Paroxysmal Nocturnal Hemoglobinuria" @en
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http://nanbyodata.jp/ontology/nanbyo#1000315 (rdf:type owl:Class )
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hasExactSynonym "PNH in the setting of another specified bone marrow disorder" @en
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hasExactSynonym "Paroxysmal nocturnal hemoglobinuria" @en
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http://nanbyodata.jp/ontology/nanbyo#1000317 (rdf:type owl:Class )
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has_notification_number "63" xsd:string
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hasExactSynonym "Idiopathic thrombocytopenic purpura" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/063-201704-kojin.pdf
rdfs:label "特発性血小板減少性紫斑病" @ja
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http://nanbyodata.jp/ontology/nanbyo#1000318 (rdf:type owl:Class )
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http://nanbyodata.jp/ontology/nanbyo#1000319 (rdf:type owl:Class )
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hasExactSynonym "Congenital thrombotic thrombocytopenic purpura" @en
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rdfs:label "先天性血栓性血小板減少性紫斑病" @ja
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http://nanbyodata.jp/ontology/nanbyo#1000320 (rdf:type owl:Class )
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has_notification_number "64" xsd:string
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hasExactSynonym "Acquired idiopathic thrombotic thrombocytopenic purpura" @en
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rdfs:label "後天性原発性血栓性血小板減少性紫斑病" @ja
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http://nanbyodata.jp/ontology/nanbyo#1000321 (rdf:type owl:Class )
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has_notification_number "64" xsd:string
dcterms:identifier "1000321" xsd:string
hasExactSynonym "secondary thrombotic thrombocytopenic purpura" @en
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rdfs:label "後天性二次性血栓性血小板減少性紫斑病" @ja
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http://nanbyodata.jp/ontology/nanbyo#1000322 (rdf:type owl:Class )
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has_notification_number "65" xsd:string
dcterms:identifier "1000322" xsd:string
hasExactSynonym "Primary immunodeficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "原発性免疫不全症候群" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0003778
http://nanbyodata.jp/ontology/nanbyo#1000323 (rdf:type owl:Class )
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has_notification_number "65" xsd:string
dcterms:identifier "1000323" xsd:string
hasExactSynonym "X-linked severe combined immunodeficiency" @en
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rdfs:label "X連鎖重症複合免疫不全症" @ja
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http://nanbyodata.jp/ontology/nanbyo#1000324 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000324" xsd:string
hasExactSynonym "Reticular dysgenesis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "細網異形成症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009973
http://nanbyodata.jp/ontology/nanbyo#1000325 (rdf:type owl:Class )
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has_notification_number "65" xsd:string
dcterms:identifier "1000325" xsd:string
hasExactSynonym "ADA欠損症" @ja
hasExactSynonym "Adenosine deaminase deficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "アデノシンデアミナーゼ 欠損症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007064
http://nanbyodata.jp/ontology/nanbyo#1000326 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000326" xsd:string
hasExactSynonym "Omenn syndrome" @en
hasExactSynonym "Omenn症候群" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "オーメン症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011338
http://nanbyodata.jp/ontology/nanbyo#1000327 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000327" xsd:string
hasExactSynonym "Purine nucleoside phosphorylase deficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "プリンヌクレオシドホスホリラーゼ欠損症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0013171
http://nanbyodata.jp/ontology/nanbyo#1000328 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000328" xsd:string
hasExactSynonym "CD8 deficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "CD8欠損症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
http://nanbyodata.jp/ontology/nanbyo#1000329 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000329" xsd:string
hasExactSynonym "Zap-70 deficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "ZAP-70欠損症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010023
http://nanbyodata.jp/ontology/nanbyo#1000330 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000330" xsd:string
hasExactSynonym "MHC class I deficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "MHCクラスI欠損症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011476
http://nanbyodata.jp/ontology/nanbyo#1000331 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000331" xsd:string
hasExactSynonym "MHC class II deficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "MHCクラスII欠損症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008855
http://nanbyodata.jp/ontology/nanbyo#1000332 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000332" xsd:string
hasExactSynonym "Wiskott-Aldrich syndrome" @en
hasExactSynonym "Wiskott-Aldrich症候群" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "ウィスコット・オルドリッチ症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010518
http://nanbyodata.jp/ontology/nanbyo#1000333 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000333" xsd:string
hasExactSynonym "Ataxia telangiectasia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "毛細血管拡張性運動失調症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
http://nanbyodata.jp/ontology/nanbyo#1000334 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000334" xsd:string
hasExactSynonym "Nijmegen breakage syndrome" @en
hasExactSynonym "Nijmegen breakage症候群" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "ナイミーヘン染色体不安定症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009623
http://nanbyodata.jp/ontology/nanbyo#1000335 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000335" xsd:string
hasExactSynonym "Bloom syndrome" @en
hasExactSynonym "Bloom症候群" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "ブルーム症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008876
http://nanbyodata.jp/ontology/nanbyo#1000336 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000336" xsd:string
hasExactSynonym "ICF syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "ICF症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000133
http://nanbyodata.jp/ontology/nanbyo#1000337 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000337" xsd:string
hasExactSynonym "PMS2 deficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "PMS2異常症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
http://nanbyodata.jp/ontology/nanbyo#1000338 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000338" xsd:string
hasExactSynonym "RIDDLE syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "RIDDLE症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012764
http://nanbyodata.jp/ontology/nanbyo#1000339 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000339" xsd:string
hasExactSynonym "Schimke syndrome" @en
hasExactSynonym "Schimke症候群" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "シムケ症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009458
http://nanbyodata.jp/ontology/nanbyo#1000340 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000340" xsd:string
hasExactSynonym "Netherton syndrome" @en
hasExactSynonym "Netherton症候群" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "ネザートン症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009735
http://nanbyodata.jp/ontology/nanbyo#1000341 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000341" xsd:string
hasExactSynonym "thymus hypoplasia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "胸腺低形成" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
http://nanbyodata.jp/ontology/nanbyo#1000342 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000342" xsd:string
hasExactSynonym "DiGeorge syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "DiGeorge症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000341
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008564
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018923
http://nanbyodata.jp/ontology/nanbyo#1000343 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000343" xsd:string
hasExactSynonym "22q11.2 deletion syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "22q11.2欠失症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000341
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008564
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018923
http://nanbyodata.jp/ontology/nanbyo#1000344 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000344" xsd:string
hasExactSynonym "Hyper-IgE syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "高IgE症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018037
http://nanbyodata.jp/ontology/nanbyo#1000345 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000345" xsd:string
hasExactSynonym "Hepatic veno-occlusive disease-immunodeficiency syndrome" @en
hasExactSynonym "Hepatic Veno-Occlusive Disease with Immunodeficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "肝中心静脈閉鎖症を伴う免疫不全症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009338
http://nanbyodata.jp/ontology/nanbyo#1000346 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000346" xsd:string
hasExactSynonym "Dyskeratosis congenita" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "先天性角化不全症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015780
http://nanbyodata.jp/ontology/nanbyo#1000347 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000347" xsd:string
hasExactSynonym "X-linked agammaglobulinemia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "X連鎖無ガンマグロブリン血症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010421
http://nanbyodata.jp/ontology/nanbyo#1000348 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000348" xsd:string
hasExactSynonym "Common variable immunodeficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "分類不能型免疫不全症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015517
http://nanbyodata.jp/ontology/nanbyo#1000349 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000349" xsd:string
hasExactSynonym "Hyper IgM syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "高IgM症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0003947
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010626
http://nanbyodata.jp/ontology/nanbyo#1000350 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000350" xsd:string
hasExactSynonym "IgG subclass deficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "IgGサブクラス欠損症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0045045
http://nanbyodata.jp/ontology/nanbyo#1000351 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000351" xsd:string
hasExactSynonym "Selective IgA deficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "選択的IgA欠損症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0001341
http://nanbyodata.jp/ontology/nanbyo#1000352 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000352" xsd:string
hasExactSynonym "Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "特異抗体産生不全症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
http://nanbyodata.jp/ontology/nanbyo#1000353 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000353" xsd:string
hasExactSynonym "Transient hypogammaglobulinaemia of infancy with normal numbers of B cells" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "乳児一過性低ガンマグロブリン血症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
http://nanbyodata.jp/ontology/nanbyo#1000354 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000354" xsd:string
hasExactSynonym "Chédiak-Higashi syndrome" @en
hasExactSynonym "Chédiak-Higashi症候群" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "チェディアック・東症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008963
http://nanbyodata.jp/ontology/nanbyo#1000355 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000355" xsd:string
hasExactSynonym "X-linked lymphoproliferative syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "X連鎖リンパ増殖症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010627
http://nanbyodata.jp/ontology/nanbyo#1000356 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000356" xsd:string
hasExactSynonym "ALPS" @en
hasExactSynonym "ALPS" @ja
hasExactSynonym "Autoimmune lymphoproliferative syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "自己免疫性リンパ増殖症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011158
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017979
http://nanbyodata.jp/ontology/nanbyo#1000357 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000357" xsd:string
hasExactSynonym "Severe congenital neutropenia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "重症先天性好中球減少症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018542
http://nanbyodata.jp/ontology/nanbyo#1000358 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000358" xsd:string
hasExactSynonym "Cyclic neutropenia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "周期性好中球減少症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008090
http://nanbyodata.jp/ontology/nanbyo#1000359 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000359" xsd:string
hasExactSynonym "Leukocyte adhesion deficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "白血球接着不全症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017570
http://nanbyodata.jp/ontology/nanbyo#1000360 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000360" xsd:string
hasExactSynonym "Shwachman-Diamond syndrome" @en
hasExactSynonym "Shwachman-Diamond症候群" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "シュワッハマン・ダイアモンド症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009833
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0044204
http://nanbyodata.jp/ontology/nanbyo#1000361 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000361" xsd:string
hasExactSynonym "Chronic granulomatous disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "慢性肉芽腫症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018305
http://nanbyodata.jp/ontology/nanbyo#1000362 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000362" xsd:string
hasExactSynonym "Myeloperoxidase deficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "ミエロペルオキシダーゼ欠損症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009694
http://nanbyodata.jp/ontology/nanbyo#1000363 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000363" xsd:string
hasExactSynonym "Mendelian susceptibility to mycobacterial disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "メンデル遺伝型マイコバクテリア易感染症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
http://nanbyodata.jp/ontology/nanbyo#1000364 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000364" xsd:string
hasExactSynonym "Anhidrotic ectodermal dysplasia with immunodeficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "免疫不全を伴う無汗性外胚葉形成異常症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010293
http://nanbyodata.jp/ontology/nanbyo#1000365 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000365" xsd:string
hasExactSynonym "IRAK4 deficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "IRAK4欠損症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
http://nanbyodata.jp/ontology/nanbyo#1000366 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000366" xsd:string
hasExactSynonym "MyD88 deficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "MyD88欠損症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
http://nanbyodata.jp/ontology/nanbyo#1000367 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000367" xsd:string
hasExactSynonym "Chronic mucocutaneous candidiasis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "慢性皮膚粘膜カンジダ症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015279
http://nanbyodata.jp/ontology/nanbyo#1000368 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000368" xsd:string
hasExactSynonym "Inherited deficiency of complement system" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "先天性補体欠損症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
http://nanbyodata.jp/ontology/nanbyo#1000369 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "65" xsd:string
dcterms:identifier "1000369" xsd:string
hasExactSynonym "C1 inhibitor deficiency" @en
hasExactSynonym "C1インヒビター欠損症" @ja
hasExactSynonym "Hereditary angioedema" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/065-201704-kojin.pdf
rdfs:label "遺伝性血管性浮腫" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000322
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007361
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019623
http://nanbyodata.jp/ontology/nanbyo#1000370 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "66" xsd:string
dcterms:identifier "1000370" xsd:string
hasExactSynonym "IgA nephropathy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/066-201704-kojin.pdf
rdfs:label "IgA腎症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005342
http://nanbyodata.jp/ontology/nanbyo#1000371 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "67" xsd:string
dcterms:identifier "1000371" xsd:string
hasExactSynonym "Polycystic kidney" @en
rdfs:isDefinedBy file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl
rdfs:label "多発性嚢胞腎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020642
http://nanbyodata.jp/ontology/nanbyo#1000372 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "67" xsd:string
dcterms:identifier "1000372" xsd:string
hasExactSynonym "ADPKD" @en
hasExactSynonym "Autosomal Dominant Polycystic Kidney Disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/067-01-201704-kojin.pdf
rdfs:label "常染色体優性多発性嚢胞腎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000371
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0004691
http://nanbyodata.jp/ontology/nanbyo#1000373 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "67" xsd:string
dcterms:identifier "1000373" xsd:string
hasExactSynonym "ARPKD" @en
hasExactSynonym "Autosomal Dominant Polycystic Kidney Disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/067-02-201704-kojin.pdf
rdfs:label "常染色体劣性多発性嚢胞腎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000371
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0004691
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009889
http://nanbyodata.jp/ontology/nanbyo#1000374 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000009
has_notification_number "68" xsd:string
dcterms:identifier "1000374" xsd:string
hasExactSynonym "Ossification of the ligamentum flavum" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/068-201704-kojin.pdf
rdfs:label "黄色靱帯骨化症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000375 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000009
has_notification_number "69" xsd:string
dcterms:identifier "1000375" xsd:string
hasExactSynonym "Ossification of posterior longitudinal ligament" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/069-201704-kojin.pdf
rdfs:label "後縦靱帯骨化症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011230
http://nanbyodata.jp/ontology/nanbyo#1000376 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000009
has_notification_number "70" xsd:string
dcterms:identifier "1000376" xsd:string
hasExactSynonym "Spinal stenosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/070-201704-kojin.pdf
rdfs:label "広範脊柱管狭窄症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005965
http://nanbyodata.jp/ontology/nanbyo#1000377 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000009
has_notification_number "71" xsd:string
dcterms:identifier "1000377" xsd:string
hasExactSynonym "Idiopathic osteonecrosis of the femoral head" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/071-201704-kojin.pdf
rdfs:label "特発性大腿骨頭壊死症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000378 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "72" xsd:string
dcterms:identifier "1000378" xsd:string
hasExactSynonym "Pituitary ADH secretion disorders" @en
rdfs:isDefinedBy file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl
rdfs:label "下垂体性ADH分泌異常症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000379 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "72" xsd:string
dcterms:identifier "1000379" xsd:string
hasExactSynonym "Central diabetes insipidus" @en
hasExactSynonym "バゾプレシン分泌低下症" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/072-01-201704-kojin.pdf
rdfs:label "中枢性尿崩症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000378
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007450
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015790
http://nanbyodata.jp/ontology/nanbyo#1000380 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "72" xsd:string
dcterms:identifier "1000380" xsd:string
hasExactSynonym "SIADH" @en
hasExactSynonym "Syndrome of inappropriate secretion of antidiuretic hormone" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/072-02-201704-kojin.pdf
rdfs:label "バゾプレシン分泌過剰症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000378
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0006802
http://nanbyodata.jp/ontology/nanbyo#1000381 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "73" xsd:string
dcterms:identifier "1000381" xsd:string
hasExactSynonym "TSH-secreting pituitary adenoma" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/073-201704-kojin.pdf
rdfs:label "下垂体性TSH分泌亢進症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019611
http://nanbyodata.jp/ontology/nanbyo#1000382 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "74" xsd:string
dcterms:identifier "1000382" xsd:string
hasExactSynonym "Prolactin secreting pituitary adenoma" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/074-201704-kojin.pdf
rdfs:label "下垂体性PRL分泌亢進症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010911
http://nanbyodata.jp/ontology/nanbyo#1000383 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "75" xsd:string
dcterms:identifier "1000383" xsd:string
hasExactSynonym "Cushing disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/075-201704-kojin.pdf
rdfs:label "クッシング病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0003009
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009050
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018912
http://nanbyodata.jp/ontology/nanbyo#1000384 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "76" xsd:string
dcterms:identifier "1000384" xsd:string
hasExactSynonym "Pituitary gonadotropin secretion hyperthyroidism" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/076-201704-kojin.pdf
rdfs:label "下垂体性ゴナドトロピン分泌亢進症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000385 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "76" xsd:string
dcterms:identifier "1000385" xsd:string
hasExactSynonym "Central precocious puberty" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/076-201704-kojin.pdf
rdfs:label "中枢性思春期早発症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000384
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019165
http://nanbyodata.jp/ontology/nanbyo#1000386 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "76" xsd:string
dcterms:identifier "1000386" xsd:string
hasExactSynonym "GH secreting pituitary adenoma" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/076-201704-kojin.pdf
rdfs:label "下垂体ゴナドトロピン産生腫瘍" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000384
http://nanbyodata.jp/ontology/nanbyo#1000387 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "77" xsd:string
dcterms:identifier "1000387" xsd:string
hasExactSynonym "Growth hormone secreting pituitary adenoma" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/077-201704-kojin.pdf
rdfs:label "下垂体性成長ホルモン分泌亢進症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0006238
http://nanbyodata.jp/ontology/nanbyo#1000388 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "78" xsd:string
dcterms:identifier "1000388" xsd:string
hasExactSynonym "Hypopituitarism" @en
rdfs:isDefinedBy file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl
rdfs:label "下垂体前葉機能低下症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005152
http://nanbyodata.jp/ontology/nanbyo#1000389 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "78" xsd:string
dcterms:identifier "1000389" xsd:string
hasExactSynonym "Syndrome of abnormal secretion of gonadotropin" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/078-01-201704-kojin.pdf
rdfs:label "ゴナドトロピン分泌低下症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000388
http://nanbyodata.jp/ontology/nanbyo#1000390 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "78" xsd:string
dcterms:identifier "1000390" xsd:string
hasExactSynonym "ACTH分泌低下症" @ja
hasExactSynonym "Syndrome of abnormal secretion of adrenocorticotropic hormone" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/078-02-201704-kojin.pdf
rdfs:label "副腎皮質刺激ホルモン分泌低下症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000388
http://nanbyodata.jp/ontology/nanbyo#1000391 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "78" xsd:string
dcterms:identifier "1000391" xsd:string
hasExactSynonym "Syndrome of abnormal secretion of thyroid-stimulating hormone" @en
hasExactSynonym "TSH分泌低下症" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/078-03-201704-kojin.pdf
rdfs:label "甲状腺刺激ホルモン分泌低下症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000388
http://nanbyodata.jp/ontology/nanbyo#1000392 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "78" xsd:string
dcterms:identifier "1000392" xsd:string
hasExactSynonym "Growth hormone secretion deficiency of dwarfism" @en
hasExactSynonym "成長ホルモン分泌不全症(小児)" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/078-04-201704-kojin.pdf
rdfs:label "GH 分泌不全性低身長症(小児)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000388
http://nanbyodata.jp/ontology/nanbyo#1000393 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "78" xsd:string
dcterms:identifier "1000393" xsd:string
hasExactSynonym "Adult growth hormone deficiency" @en
hasExactSynonym "成長ホルモン分泌不全症(成人)" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/078-05-201704-kojin.pdf
rdfs:label "成人GH 分泌不全症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000388
http://nanbyodata.jp/ontology/nanbyo#1000394 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "78" xsd:string
dcterms:identifier "1000394" xsd:string
hasExactSynonym "Syndrome of abnormal secretion of Prolactin" @en
hasExactSynonym "プロラクチン分泌低下症" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/078-06-201704-kojin.pdf
rdfs:label "プロラクチン分泌低下症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000388
http://nanbyodata.jp/ontology/nanbyo#1000395 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "79" xsd:string
dcterms:identifier "1000395" xsd:string
hasExactSynonym "Homozygous familial hypercholesterolemia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/079-201704-kojin.pdf
rdfs:label "家族性高コレステロール血症(ホモ接合体)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018328
http://nanbyodata.jp/ontology/nanbyo#1000396 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "80" xsd:string
dcterms:identifier "1000396" xsd:string
hasExactSynonym "Resistance to thyroid hormone" @en
hasExactSynonym "Syndrome of resistance to thyroid hormone" @en
hasExactSynonym "Thyroid hormone insensitivity syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/080-201704-kojin.pdf
rdfs:label "甲状腺ホルモン不応症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000397 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "81" xsd:string
dcterms:identifier "1000397" xsd:string
hasExactSynonym "Congenial adrenal cortex enzyme deficiency" @en
hasExactSynonym "Congenital adrenal enzyme deficiency" @en
hasExactSynonym "Congenital adrenal hyperplasia" @en
rdfs:isDefinedBy file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl
rdfs:label "先天性副腎皮質酵素欠損症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015898
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018479
http://nanbyodata.jp/ontology/nanbyo#1000398 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "81" xsd:string
dcterms:identifier "1000398" xsd:string
hasExactSynonym "Congenital Lipoid Adrenal Hyperplasia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/081-01-201704-kojin.pdf
rdfs:label "先天性リポイド過形成症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000397
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018479
http://nanbyodata.jp/ontology/nanbyo#1000399 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "81" xsd:string
dcterms:identifier "1000399" xsd:string
hasExactSynonym "3β-Hydroxysteroid Dehydrogenase Deficiency" @en
hasExactSynonym "3β-HSD欠損症" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/081-02-201704-kojin.pdf
rdfs:label "3β−水酸化ステロイド脱水素酵素欠損症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000397
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008727
http://nanbyodata.jp/ontology/nanbyo#1000400 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "81" xsd:string
dcterms:identifier "1000400" xsd:string
hasExactSynonym "21-Hydroxylase deficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/081-03-201704-kojin.pdf
rdfs:label "21-水酸化酵素欠損症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000397
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008728
http://nanbyodata.jp/ontology/nanbyo#1000401 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "81" xsd:string
dcterms:identifier "1000401" xsd:string
hasExactSynonym "11β-Hydroxylase deficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/081-04-201704-kojin.pdf
rdfs:label "11β-水酸化酵素欠損症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000397
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008729
http://nanbyodata.jp/ontology/nanbyo#1000402 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "81" xsd:string
dcterms:identifier "1000402" xsd:string
hasExactSynonym "17α-Hydroxylase deficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/081-05-201704-kojin.pdf
rdfs:label "17α−水酸化酵素欠損症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000397
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008730
http://nanbyodata.jp/ontology/nanbyo#1000403 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "81" xsd:string
dcterms:identifier "1000403" xsd:string
hasExactSynonym "P450 Oxidoreductase deficiency" @en
hasExactSynonym "POR欠損症" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/081-06-201704-kojin.pdf
rdfs:label "P450オキシドレダクターゼ欠損症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000397
http://nanbyodata.jp/ontology/nanbyo#1000404 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "82" xsd:string
dcterms:identifier "1000404" xsd:string
hasExactSynonym "Congenital adrenal hypoplasia" @en
hasExactSynonym "X-linked congenital adrenal hypoplasia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/082-201704-kojin.pdf
rdfs:label "先天性副腎低形成症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010264
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016241
http://nanbyodata.jp/ontology/nanbyo#1000405 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "82" xsd:string
dcterms:identifier "1000405" xsd:string
hasExactSynonym "DAX1 abnormality" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/082-201704-kojin.pdf
rdfs:label "DAX-1異常症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000404
http://nanbyodata.jp/ontology/nanbyo#1000406 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "82" xsd:string
dcterms:identifier "1000406" xsd:string
hasExactSynonym "SF-1 abnormality" @en
hasExactSynonym "SF-1/Ad4BP異常症" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/082-201704-kojin.pdf
rdfs:label "SF-1異常症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000404
http://nanbyodata.jp/ontology/nanbyo#1000407 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "82" xsd:string
dcterms:identifier "1000407" xsd:string
hasExactSynonym "IMAGe syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/082-201704-kojin.pdf
rdfs:label "IMAge症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000404
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0013873
http://nanbyodata.jp/ontology/nanbyo#1000408 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "82" xsd:string
dcterms:identifier "1000408" xsd:string
hasExactSynonym "ACTH unresponsiveness" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/082-201704-kojin.pdf
rdfs:label "ACTH不応症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000404
http://nanbyodata.jp/ontology/nanbyo#1000409 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "82" xsd:string
dcterms:identifier "1000409" xsd:string
hasExactSynonym "MC2R deficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/082-201704-kojin.pdf
rdfs:label "MC2R異常症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000408
http://nanbyodata.jp/ontology/nanbyo#1000410 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "82" xsd:string
dcterms:identifier "1000410" xsd:string
hasExactSynonym "MRAP deficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/082-201704-kojin.pdf
rdfs:label "MRAP異常症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000408
http://nanbyodata.jp/ontology/nanbyo#1000411 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "82" xsd:string
dcterms:identifier "1000411" xsd:string
hasExactSynonym "Allgrove Syndrome" @en
hasExactSynonym "Triple A syndrome" @en
hasExactSynonym "TripleA症候群" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/082-201704-kojin.pdf
rdfs:label "Allgrove症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000404
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009279
http://nanbyodata.jp/ontology/nanbyo#1000412 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "83" xsd:string
dcterms:identifier "1000412" xsd:string
hasExactSynonym "Addison disease" @en
hasExactSynonym "Primary chronic adrenocortical insufficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/083-201704-kojin.pdf
rdfs:label "アジソン病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009410
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015129
http://nanbyodata.jp/ontology/nanbyo#1000413 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "83" xsd:string
dcterms:identifier "1000413" xsd:string
hasExactSynonym "Autoimmune Addison disease" @en
hasExactSynonym "特発性アジソン病" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/083-201704-kojin.pdf
rdfs:label "アジソン病(自己免疫性副腎炎)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000412
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009410
http://nanbyodata.jp/ontology/nanbyo#1000414 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "83" xsd:string
dcterms:identifier "1000414" xsd:string
hasExactSynonym "Tuberculous Addison's disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/083-201704-kojin.pdf
rdfs:label "結核性アジソン病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000412
http://nanbyodata.jp/ontology/nanbyo#1000415 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "83" xsd:string
dcterms:identifier "1000415" xsd:string
hasExactSynonym "Infectious Addison's diseas" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/083-201704-kojin.pdf
rdfs:label "アジソン病(感染症)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000412
http://nanbyodata.jp/ontology/nanbyo#1000416 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000011
has_notification_number "84" xsd:string
dcterms:identifier "1000416" xsd:string
hasExactSynonym "Sarcoidosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/084-201704-kojin.pdf
rdfs:label "サルコイドーシス" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019338
http://nanbyodata.jp/ontology/nanbyo#1000417 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000011
has_notification_number "85" xsd:string
dcterms:identifier "1000417" xsd:string
hasExactSynonym "Idiopathic interstitial pneumonia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/085-201704-kojin.pdf
rdfs:label "特発性間質性肺炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000418 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000011
has_notification_number "85" xsd:string
dcterms:identifier "1000418" xsd:string
hasExactSynonym "IPF" @ja
hasExactSynonym "Idiopathic pulmonary fibrosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/085-201704-kojin.pdf
rdfs:label "特発性肺線維症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000417
http://nanbyodata.jp/ontology/nanbyo#1000419 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000011
has_notification_number "85" xsd:string
dcterms:identifier "1000419" xsd:string
hasExactSynonym "" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/085-201704-kojin.pdf
rdfs:label "IPF以外の間質性肺炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000417
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
http://nanbyodata.jp/ontology/nanbyo#1000420 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000011
has_notification_number "85" xsd:string
dcterms:identifier "1000420" xsd:string
hasExactSynonym "nonspecific interstitial pneumonia" @en
hasExactSynonym "非特異的間質性肺炎 " @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/085-201704-kojin.pdf
rdfs:label "NSIP" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000419
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019622
http://nanbyodata.jp/ontology/nanbyo#1000421 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000011
has_notification_number "85" xsd:string
dcterms:identifier "1000421" xsd:string
hasExactSynonym "acute interstitial pneumonia" @en
hasExactSynonym "急性間質性肺炎" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/085-201704-kojin.pdf
rdfs:label "AIP" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000419
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019203
http://nanbyodata.jp/ontology/nanbyo#1000422 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000011
has_notification_number "85" xsd:string
dcterms:identifier "1000422" xsd:string
hasExactSynonym "Cryptogenic organizing pneumonia" @en
hasExactSynonym "特発性器質化肺炎" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/085-201704-kojin.pdf
rdfs:label "COP" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000419
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015264
http://nanbyodata.jp/ontology/nanbyo#1000423 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000011
has_notification_number "85" xsd:string
dcterms:identifier "1000423" xsd:string
hasExactSynonym "desquamative interstitial pneumonia" @en
hasExactSynonym "剥離型間質性肺炎 " @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/085-201704-kojin.pdf
rdfs:label "DIP" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000419
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009887
http://nanbyodata.jp/ontology/nanbyo#1000424 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000011
has_notification_number "85" xsd:string
dcterms:identifier "1000424" xsd:string
hasExactSynonym "Respiratory bronchiolitis-associated interstitial lung disease" @en
hasExactSynonym "呼吸細気管支炎関連間質性肺炎" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/085-201704-kojin.pdf
rdfs:label "RB-ILD" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000419
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009887
http://nanbyodata.jp/ontology/nanbyo#1000425 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000011
has_notification_number "85" xsd:string
dcterms:identifier "1000425" xsd:string
hasExactSynonym "Lymphoid interstitial pneumonia" @en
hasExactSynonym "リンパ球性間質性肺炎" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/085-201704-kojin.pdf
rdfs:label "LIP" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000419
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009537
http://nanbyodata.jp/ontology/nanbyo#1000426 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000011
has_notification_number "86" xsd:string
dcterms:identifier "1000426" xsd:string
hasExactSynonym "Pulmonary arterial hypertension" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/086-201704-kojin.pdf
rdfs:label "肺動脈性肺高血圧症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015924
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0024533
http://nanbyodata.jp/ontology/nanbyo#1000427 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000011
has_notification_number "87" xsd:string
dcterms:identifier "1000427" xsd:string
hasExactSynonym "Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/087-201704-kojin.pdf
rdfs:label "肺静脈閉塞症/肺毛細血管腫症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018554
http://nanbyodata.jp/ontology/nanbyo#1000428 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000011
has_notification_number "87" xsd:string
dcterms:identifier "1000428" xsd:string
hasExactSynonym "Pulmonary venous obstruction" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/087-201704-kojin.pdf
rdfs:label "肺静脈閉塞症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000427
http://nanbyodata.jp/ontology/nanbyo#1000429 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000011
has_notification_number "87" xsd:string
dcterms:identifier "1000429" xsd:string
hasExactSynonym "Pulmonary capillary hemangiomatosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/087-201704-kojin.pdf
rdfs:label "肺毛細血管腫症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000427
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009329
http://nanbyodata.jp/ontology/nanbyo#1000430 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000011
has_notification_number "88" xsd:string
dcterms:identifier "1000430" xsd:string
hasExactSynonym "Chronic thromboembolic pulmonary hypertension" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/088-201704-kojin.pdf
rdfs:label "慢性血栓塞栓性肺高血圧症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0013024
http://nanbyodata.jp/ontology/nanbyo#1000431 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000011
has_notification_number "89" xsd:string
dcterms:identifier "1000431" xsd:string
hasExactSynonym "Lymphangioleiomyomatosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/089-201704-kojin.pdf
rdfs:label "リンパ脈管筋腫症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0006277
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011705
http://nanbyodata.jp/ontology/nanbyo#1000432 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000012
has_notification_number "90" xsd:string
dcterms:identifier "1000432" xsd:string
hasExactSynonym "Retinitis pigmentosa" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/090-201704-kojin.pdf
rdfs:label "網膜色素変性症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008377
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011202
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019200
http://nanbyodata.jp/ontology/nanbyo#1000433 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000012
has_notification_number "90" xsd:string
dcterms:identifier "1000433" xsd:string
hasExactSynonym "Sporadic retinitis pigmentosa" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/090-201704-kojin.pdf
rdfs:label "網膜色素変性症(孤発型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000432
http://nanbyodata.jp/ontology/nanbyo#1000434 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000012
has_notification_number "90" xsd:string
dcterms:identifier "1000434" xsd:string
hasExactSynonym "autosomal dominant retinitis pigmentosa" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/090-201704-kojin.pdf
rdfs:label "網膜色素変性症(常染色体優性遺伝子型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000432
http://nanbyodata.jp/ontology/nanbyo#1000435 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000012
has_notification_number "90" xsd:string
dcterms:identifier "1000435" xsd:string
hasExactSynonym "Autosomal Recessive Retinitis Pigmentosa" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/090-201704-kojin.pdf
rdfs:label "網膜色素変性症(常染色体劣性遺伝子型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000432
http://nanbyodata.jp/ontology/nanbyo#1000436 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000012
has_notification_number "90" xsd:string
dcterms:identifier "1000436" xsd:string
hasExactSynonym "X-linked recessive retinitis pigmentosa" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/090-201704-kojin.pdf
rdfs:label "網膜色素変性症(X染色体劣性遺伝子型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000432
http://nanbyodata.jp/ontology/nanbyo#1000437 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000012
has_notification_number "90" xsd:string
dcterms:identifier "1000437" xsd:string
hasExactSynonym "Digenic retinitis pigmentosa" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/090-201704-kojin.pdf
rdfs:label "網膜色素変性症(二遺伝子異常型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000432
http://nanbyodata.jp/ontology/nanbyo#1000438 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000014
has_notification_number "91" xsd:string
dcterms:identifier "1000438" xsd:string
hasExactSynonym "Budd-Chiari syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/091-201704-kojin.pdf
rdfs:label "バッド・キアリ症候群" @ja
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hasExactSynonym "Idiopathic portal hypertension" @en
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rdfs:label "特発性門脈圧亢進症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0021969
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0037251
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hasExactSynonym "Primary biliary cirrhosis" @en
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rdfs:label "原発性胆汁性胆管炎" @ja
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hasExactSynonym "Primary sclerosing cholangitis" @en
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rdfs:label "原発性硬化性胆管炎" @ja
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hasExactSynonym "Autoimmune hepatitis" @en
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rdfs:label "自己免疫性肝炎" @ja
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rdfs:label "自己免疫性肝炎(非典型例)" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
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hasExactSynonym "Colonic Crohn Disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/096-201704-kojin.pdf
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hasExactSynonym "Crohn ileocolitis" @en
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rdfs:label "小腸大腸型クローン病" @ja
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hasExactSynonym "atypical crohn's disease" @en
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hasExactSynonym "Ulcerative colitis" @en
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rdfs:label "潰瘍性大腸炎" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005101
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009960
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hasExactSynonym "pan-ulcerative colitis" @en
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rdfs:label "潰瘍性大腸炎(全大腸炎型)" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005536
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000014
has_notification_number "97" xsd:string
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hasExactSynonym "left-sided colitis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/097-201804-kojin.pdf
rdfs:label "潰瘍性大腸炎(左側大腸炎型)" @ja
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hasExactSynonym "Ulcerative proctitis" @en
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rdfs:label "潰瘍性大腸炎(直腸炎型)" @ja
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hasExactSynonym "Right-sided ulcerative colitis" @en
hasExactSynonym "segmental colitis" @en
hasExactSynonym "潰瘍性大腸炎(分節型)" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/097-201804-kojin.pdf
rdfs:label "潰瘍性大腸炎(右側型)" @ja
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000014
has_notification_number "98" xsd:string
dcterms:identifier "1000455" xsd:string
hasExactSynonym "Eosinophilic gastrointestinal disease" @en
rdfs:isDefinedBy file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl
rdfs:label "好酸球性消化管疾患" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018438
http://nanbyodata.jp/ontology/nanbyo#1000456 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000014
has_notification_number "98" xsd:string
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hasExactSynonym "N-FPIES" @ja
hasExactSynonym "Neonatal food-protein induced enterocolitis" @en
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rdfs:label "新生児乳児食物蛋白誘発胃腸炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000455
http://nanbyodata.jp/ontology/nanbyo#1000457 (rdf:type owl:Class )
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has_notification_number "98" xsd:string
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hasExactSynonym "EoE" @ja
hasExactSynonym "Eosinophilic esophagitis" @en
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rdfs:label "好酸球性食道炎" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005361
http://nanbyodata.jp/ontology/nanbyo#1000458 (rdf:type owl:Class )
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has_notification_number "98" xsd:string
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hasExactSynonym "EGE" @ja
hasExactSynonym "Eosinophilic gastroenteritis" @en
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rdfs:label "好酸球性胃腸炎" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016129
http://nanbyodata.jp/ontology/nanbyo#1000459 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000014
has_notification_number "99" xsd:string
dcterms:identifier "1000459" xsd:string
hasExactSynonym "Chronic intestinal pseudo-obstruction" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/099-201704-kojin.pdf
rdfs:label "慢性特発性偽性腸閉塞症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017574
http://nanbyodata.jp/ontology/nanbyo#1000460 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000014
has_notification_number "100" xsd:string
dcterms:identifier "1000460" xsd:string
hasExactSynonym "Huge bladder short and small colon intestinal peristalsis deficiency" @en
hasExactSynonym "Megacystis microcolon intestinal hypoperistalsis syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/100-201704-kojin.pdf
rdfs:label "巨大膀胱短小結腸腸管蠕動不全症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007960
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has_notification_number "101" xsd:string
dcterms:identifier "1000461" xsd:string
hasExactSynonym "Congenital isolated hypoganglionosis" @en
hasExactSynonym "Intestinal ganglion cells insignificant disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/101-201704-kojin.pdf
rdfs:label "腸管神経節細胞僅少症" @ja
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has_notification_number "102" xsd:string
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hasExactSynonym "Rubinstein-Taybi syndrome" @en
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rdfs:label "ルビンシュタイン・テイビ症候群" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019188
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "103" xsd:string
dcterms:identifier "1000463" xsd:string
hasExactSynonym "CFC syndrome" @en
hasExactSynonym "Cardio-facio-cutaneous syndrome" @en
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rdfs:label "CFC症候群" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007265
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015280
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has_notification_number "104" xsd:string
dcterms:identifier "1000464" xsd:string
hasExactSynonym "Costello syndrome" @en
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rdfs:label "コステロ症候群" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009026
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has_notification_number "105" xsd:string
dcterms:identifier "1000465" xsd:string
hasExactSynonym "CHARGE syndrome" @en
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rdfs:label "チャージ症候群" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008965
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has_notification_number "106" xsd:string
dcterms:identifier "1000466" xsd:string
hasExactSynonym "Cryopyrin associated periodic fever syndrome" @en
hasExactSynonym "Cryopyrin-associated periodic syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/106-201704-kojin.pdf
rdfs:label "クリオピリン関連周期熱症候群" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016168
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hasExactSynonym "Familial cold autoinflammatorysyndrome" @en
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rdfs:label "家族性寒冷蕁麻疹" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007349
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018768
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hasExactSynonym "Muckle-Wells syndrome" @en
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009564
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has_notification_number "106" xsd:string
dcterms:identifier "1000469" xsd:string
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hasExactSynonym "Chronic infantile neurological cutaneous articular syndrome" @en
hasExactSynonym "NOMID" @ja
hasExactSynonym "Neonatal Onset Multisystem Inflammatory Disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/106-201704-kojin.pdf
rdfs:label "CINCA症候群" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011776
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has_notification_number "107" xsd:string
dcterms:identifier "1000470" xsd:string
hasExactSynonym "Juvenile idiopathic arthritis" @en
hasExactSynonym "Systemic-onset juvenile idiopathic arthritis" @en
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rdfs:label "若年性特発性関節炎" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011429
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019434
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hasExactSynonym "Systemic juvenile idiopathic arthritis" @en
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has_notification_number "107" xsd:string
dcterms:identifier "1000472" xsd:string
hasExactSynonym "Articular-type juvenile idiopathic arthritis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/107-02-201804-kojin.pdf
rdfs:label "関節型若年性特発性関節炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000470
http://nanbyodata.jp/ontology/nanbyo#1000473 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "108" xsd:string
dcterms:identifier "1000473" xsd:string
hasExactSynonym "TNF receptor-associated periodic syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/108-201704-kojin.pdf
rdfs:label "TNF受容体関連周期性症候群" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007727
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "109" xsd:string
dcterms:identifier "1000474" xsd:string
hasExactSynonym "Atypical hemolytic uremic syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/109-201704-kojin.pdf
rdfs:label "非典型溶血性尿毒症症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016244
http://nanbyodata.jp/ontology/nanbyo#1000475 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "109" xsd:string
dcterms:identifier "1000475" xsd:string
hasExactSynonym "congenital atypical hemolytic uremic syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/109-201704-kojin.pdf
rdfs:label "先天性非典型溶血性尿毒症症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000474
http://nanbyodata.jp/ontology/nanbyo#1000476 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "109" xsd:string
dcterms:identifier "1000476" xsd:string
hasExactSynonym "acquired aHUS" @en
hasExactSynonym "acquired atypical hemolytic uremic syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/109-201704-kojin.pdf
rdfs:label "後天性非典型溶血性尿毒症症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000474
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "110" xsd:string
dcterms:identifier "1000477" xsd:string
hasExactSynonym "Blau syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/110-201704-kojin.pdf
rdfs:label "ブラウ症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008523
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "111" xsd:string
dcterms:identifier "1000478" xsd:string
hasExactSynonym "Congenital myopathy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/111-201704-kojin.pdf
rdfs:label "先天性ミオパチー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019952
http://nanbyodata.jp/ontology/nanbyo#1000479 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "111" xsd:string
dcterms:identifier "1000479" xsd:string
hasExactSynonym "Nemaline myopathy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/111-201704-kojin.pdf
rdfs:label "ネマリンミオパチー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000478
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018958
http://nanbyodata.jp/ontology/nanbyo#1000480 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "111" xsd:string
dcterms:identifier "1000480" xsd:string
hasExactSynonym "Central core disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/111-201704-kojin.pdf
rdfs:label "セントラルコア病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000478
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007294
http://nanbyodata.jp/ontology/nanbyo#1000481 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "111" xsd:string
dcterms:identifier "1000481" xsd:string
hasExactSynonym "Minicore myopathy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/111-201704-kojin.pdf
rdfs:label "ミニコア病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000478
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009712
http://nanbyodata.jp/ontology/nanbyo#1000482 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "111" xsd:string
dcterms:identifier "1000482" xsd:string
hasExactSynonym "Myotubular myopathy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/111-201704-kojin.pdf
rdfs:label "ミオチュブラーミオパチー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000478
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018947
http://nanbyodata.jp/ontology/nanbyo#1000483 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "111" xsd:string
dcterms:identifier "1000483" xsd:string
hasExactSynonym "Centronuclear myopathy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/111-201704-kojin.pdf
rdfs:label "中心核ミオパチー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000478
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002921
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018947
http://nanbyodata.jp/ontology/nanbyo#1000484 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "111" xsd:string
dcterms:identifier "1000484" xsd:string
hasExactSynonym "Congenital fiber-type disproportion myopathy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/111-201704-kojin.pdf
rdfs:label "先天性筋線維タイプ不均等症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000478
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009711
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "112" xsd:string
dcterms:identifier "1000485" xsd:string
hasExactSynonym "Marinesco-Sjogren syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/112-201704-kojin.pdf
rdfs:label "マリネスコ・シェーグレン症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009567
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "113" xsd:string
dcterms:identifier "1000486" xsd:string
hasExactSynonym "Muscular dystrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/113-201704-kojin.pdf
rdfs:label "筋ジストロフィー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020121
http://nanbyodata.jp/ontology/nanbyo#1000487 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "113" xsd:string
dcterms:identifier "1000487" xsd:string
hasExactSynonym "Dystrophinopathies" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/113-201704-kojin.pdf
rdfs:label "ジストロフィン異常症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000486
http://nanbyodata.jp/ontology/nanbyo#1000488 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "113" xsd:string
dcterms:identifier "1000488" xsd:string
hasExactSynonym "Duchenne muscular dystrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/113-201704-kojin.pdf
rdfs:label "デュシェンヌ型筋ジストロフィー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000487
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010679
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "113" xsd:string
dcterms:identifier "1000489" xsd:string
hasExactSynonym "Becker muscular dystrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/113-201704-kojin.pdf
rdfs:label "ベッカー型筋ジストロフィー" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010311
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "113" xsd:string
dcterms:identifier "1000490" xsd:string
hasExactSynonym "Limb-girdle muscular dystrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/113-201704-kojin.pdf
rdfs:label "肢帯型筋ジストロフィー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000486
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016971
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "113" xsd:string
dcterms:identifier "1000491" xsd:string
hasExactSynonym "Facioscapulohumeral muscular dystrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/113-201704-kojin.pdf
rdfs:label "顔面肩甲上腕型筋ジストロフィー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000486
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0001347
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008030
http://nanbyodata.jp/ontology/nanbyo#1000492 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "113" xsd:string
dcterms:identifier "1000492" xsd:string
hasExactSynonym "Emery-Dreifuss muscular dystrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/113-201704-kojin.pdf
rdfs:label "エメリー・ドレイフス型筋ジストロフィー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000486
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016830
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "113" xsd:string
dcterms:identifier "1000493" xsd:string
hasExactSynonym "Oculopharyngeal muscular dystrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/113-201704-kojin.pdf
rdfs:label "眼咽頭筋型筋ジストロフィー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000486
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008116
http://nanbyodata.jp/ontology/nanbyo#1000494 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "113" xsd:string
dcterms:identifier "1000494" xsd:string
hasExactSynonym "Fukuyama type congenital muscular dystrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/113-201704-kojin.pdf
rdfs:label "福山型先天性筋ジストロフィー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000486
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009678
http://nanbyodata.jp/ontology/nanbyo#1000495 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "113" xsd:string
dcterms:identifier "1000495" xsd:string
hasExactSynonym "Myotonic dystrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/113-201704-kojin.pdf
rdfs:label "筋強直性ジストロフィー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000486
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016107
http://nanbyodata.jp/ontology/nanbyo#1000496 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "114" xsd:string
dcterms:identifier "1000496" xsd:string
hasExactSynonym "Non-dystrophic myotonia syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/114-201704-kojin.pdf
rdfs:label "非ジストロフィー性ミオトニー症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016110
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0054869
http://nanbyodata.jp/ontology/nanbyo#1000497 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "114" xsd:string
dcterms:identifier "1000497" xsd:string
hasExactSynonym "Myotonia congenita" @en
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rdfs:label "先天性ミオトニー" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009710
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "114" xsd:string
dcterms:identifier "1000498" xsd:string
hasExactSynonym "Thomsen disease" @en
hasExactSynonym "トムゼン病" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/114-201704-kojin.pdf
rdfs:label "先天性ミオトニー(トムゼン病(優性遺伝)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000497
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008055
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009710
http://nanbyodata.jp/ontology/nanbyo#1000499 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "114" xsd:string
dcterms:identifier "1000499" xsd:string
hasExactSynonym "Becker disease" @en
hasExactSynonym "ベッカー病" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/114-201704-kojin.pdf
rdfs:label "先天性ミオトニー(ベッカー病(劣性遺伝)" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009715
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has_notification_number "114" xsd:string
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hasExactSynonym "Sodium channel myotonia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/114-201704-kojin.pdf
rdfs:label "ナトリウムチャネルミオトニー(カリウム惹起性ミオトニー)" @ja
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "114" xsd:string
dcterms:identifier "1000501" xsd:string
hasExactSynonym "Paramyotonia congenita" @en
hasExactSynonym "カリウム惹起性ミオトニー" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/114-201704-kojin.pdf
rdfs:label "先天性パラミオトニー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000496
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008195
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "115" xsd:string
dcterms:identifier "1000502" xsd:string
hasExactSynonym "Hereditary periodic paralysis" @en
rdfs:isDefinedBy file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl
rdfs:label "遺伝性周期性四肢麻痺" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000995
http://nanbyodata.jp/ontology/nanbyo#1000503 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "115" xsd:string
dcterms:identifier "1000503" xsd:string
hasExactSynonym "Hereditary Hypokalemic Periodic Paralysis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/115-01-201704-kojin.pdf
rdfs:label "遺伝性低カリウム性周期性四肢麻痺" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000502
http://nanbyodata.jp/ontology/nanbyo#1000504 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "115" xsd:string
dcterms:identifier "1000504" xsd:string
hasExactSynonym "Hereditary Hyperkalemic Periodic Paralysis" @en
hasExactSynonym "正カリウム性周期性四肢麻痺" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/115-02-201704-kojin.pdf
rdfs:label "遺伝性高カリウム性周期性四肢麻痺" @ja
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http://nanbyodata.jp/ontology/nanbyo#1000505 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "116" xsd:string
dcterms:identifier "1000505" xsd:string
hasExactSynonym "Atopic myelitis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/116-201704-kojin.pdf
rdfs:label "アトピー性脊髄炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000506 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "117" xsd:string
dcterms:identifier "1000506" xsd:string
hasExactSynonym "Syringomyelia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/117-201704-kojin.pdf
rdfs:label "脊髄空洞症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017987
http://nanbyodata.jp/ontology/nanbyo#1000507 (rdf:type owl:Class )
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has_notification_number "117" xsd:string
dcterms:identifier "1000507" xsd:string
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rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/117-201704-kojin.pdf
rdfs:label "症候性脊髄空洞症" @ja
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http://nanbyodata.jp/ontology/nanbyo#1000508 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
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dcterms:identifier "1000508" xsd:string
hasExactSynonym "asymptomatic Syringomyelia" @en
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rdfs:label "無症候性脊髄空洞症" @ja
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has_notification_number "118" xsd:string
dcterms:identifier "1000509" xsd:string
hasExactSynonym "Myelomeningocele" @en
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rdfs:label "脊髄髄膜瘤" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017069
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019773
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has_notification_number "119" xsd:string
dcterms:identifier "1000510" xsd:string
hasExactSynonym "Isaacs syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/119-201704-kojin.pdf
rdfs:label "アイザックス症候群" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016227
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019399
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has_notification_number "120" xsd:string
dcterms:identifier "1000511" xsd:string
hasExactSynonym "Hereditary dystonia" @en
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rdfs:label "遺伝性ジストニア" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000512 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "120" xsd:string
dcterms:identifier "1000512" xsd:string
hasExactSynonym "DYT1 dystonia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf
rdfs:label "DYT1ジストニア" @ja
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "120" xsd:string
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hasExactSynonym "DYT2 dystonia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf
rdfs:label "DYT2ジストニア" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000511
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "120" xsd:string
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hasExactSynonym "DYT3 dystonia" @en
hasExactSynonym "X 染色体連鎖ジストニア・パーキンソニスム" @ja
hasExactSynonym "X-linked dystonia-parkinsonism" @en
hasExactSynonym "lubag" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf
rdfs:label "DYT3ジストニア" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010747
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hasExactSynonym "DYT4 dystonia" @en
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rdfs:label "DYT4ジストニア" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000511
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "120" xsd:string
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hasExactSynonym "DYT14 dystonia" @en
hasExactSynonym "DYT14ジストニア" @ja
hasExactSynonym "DYT5 dystonia" @en
hasExactSynonym "Dopamine-responsive dystonia" @en
hasExactSynonym "Segawa syndrome" @en
hasExactSynonym "ドパ反応性ジストニア" @ja
hasExactSynonym "瀬川病" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf
rdfs:label "DYT5ジストニア" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000511
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016812
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "120" xsd:string
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hasExactSynonym "DYT6 dystonia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf
rdfs:label "DYT6ジストニア" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000511
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "120" xsd:string
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hasExactSynonym "DYT7 dystonia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf
rdfs:label "DYT7ジストニア" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000511
http://nanbyodata.jp/ontology/nanbyo#1000519 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "120" xsd:string
dcterms:identifier "1000519" xsd:string
hasExactSynonym "DYT8 dystonia" @en
hasExactSynonym "PNKD1" @en
hasExactSynonym "Paroxysmal nonkinesigenic dyskinesia 1" @en
hasExactSynonym "発作性非運動誘発性ジスキネジア1" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf
rdfs:label "DYT8ジストニア" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000511
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007326
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "120" xsd:string
dcterms:identifier "1000520" xsd:string
hasExactSynonym "CSE" @en
hasExactSynonym "DYT9 dystonia" @en
hasExactSynonym "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity" @en
hasExactSynonym "発作性舞踏アテトーシス・痙性対麻痺" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf
rdfs:label "DYT9ジストニア" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000511
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010983
http://nanbyodata.jp/ontology/nanbyo#1000521 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "120" xsd:string
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hasExactSynonym "DYT10 dystonia" @en
hasExactSynonym "EKD1" @en
hasExactSynonym "Episodic kinesigenic dyskinesia 1" @en
hasExactSynonym "反復発作性運動誘発性ジスキネジア1" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf
rdfs:label "DYT10ジストニア" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000511
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007494
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "120" xsd:string
dcterms:identifier "1000522" xsd:string
hasExactSynonym "DYT11 dystonia" @en
hasExactSynonym "MDS" @en
hasExactSynonym "Myoclonus-dystonia syndrome" @en
hasExactSynonym "ミオクローヌス・ジストニア症候群" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf
rdfs:label "DYT11ジストニア" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000511
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000903
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008044
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009532
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018881
http://nanbyodata.jp/ontology/nanbyo#1000523 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "120" xsd:string
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hasExactSynonym "DYT12 dystonia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf
rdfs:label "DYT12ジストニア" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000511
http://nanbyodata.jp/ontology/nanbyo#1000524 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "120" xsd:string
dcterms:identifier "1000524" xsd:string
hasExactSynonym "RDP" @en
hasExactSynonym "Rapid-onset dystonia-parkinsonism" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf
rdfs:label "急性発症ジストニア・パーキンソニズム" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000523
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007496
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "120" xsd:string
dcterms:identifier "1000525" xsd:string
hasExactSynonym "AHC" @en
hasExactSynonym "alternating hemiplegia of childhood" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf
rdfs:label "小児交互性片麻痺" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000523
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010264
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016241
http://nanbyodata.jp/ontology/nanbyo#1000526 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "120" xsd:string
dcterms:identifier "1000526" xsd:string
hasExactSynonym "CAPOS" @en
hasExactSynonym "cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf
rdfs:label "小脳失調症深部反射消失凹足視神経萎縮感覚神経障害性聴覚障害" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000523
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011038
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "120" xsd:string
dcterms:identifier "1000527" xsd:string
hasExactSynonym "DYT13 dystonia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf
rdfs:label "DYT13ジストニア" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000511
http://nanbyodata.jp/ontology/nanbyo#1000528 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "120" xsd:string
dcterms:identifier "1000528" xsd:string
hasExactSynonym "DYT15 dystonia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf
rdfs:label "DYT15ジストニア" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000511
http://nanbyodata.jp/ontology/nanbyo#1000529 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "120" xsd:string
dcterms:identifier "1000529" xsd:string
hasExactSynonym "DYT16 dystonia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf
rdfs:label "DYT16ジストニア" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000511
http://nanbyodata.jp/ontology/nanbyo#1000530 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "120" xsd:string
dcterms:identifier "1000530" xsd:string
hasExactSynonym "DYT17 dystonia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf
rdfs:label "DYT17ジストニア" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000511
http://nanbyodata.jp/ontology/nanbyo#1000531 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "120" xsd:string
dcterms:identifier "1000531" xsd:string
hasExactSynonym "DYT18 dystonia" @en
hasExactSynonym "PED" @en
hasExactSynonym "Paroxysmal execise-induced dyskinesia" @en
hasExactSynonym "発作性労作誘発性ジスキネジア" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf
rdfs:label "DYT18ジストニア" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000511
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012805
http://nanbyodata.jp/ontology/nanbyo#1000532 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "120" xsd:string
dcterms:identifier "1000532" xsd:string
hasExactSynonym "DYT19 dystonia" @en
hasExactSynonym "EKD2" @en
hasExactSynonym "Episodic kinesigenic dyskinesia 2" @en
hasExactSynonym "反復発作性運動誘発性ジスキネジア2" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf
rdfs:label "DYT19ジストニア" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000511
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012603
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "120" xsd:string
dcterms:identifier "1000533" xsd:string
hasExactSynonym "DYT20 dystonia" @en
hasExactSynonym "PNKD2" @en
hasExactSynonym "Paroxysmal nonkinesigenic dyskinesia 2" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf
rdfs:label "DYT20ジストニア" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000511
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012629
http://nanbyodata.jp/ontology/nanbyo#1000534 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "120" xsd:string
dcterms:identifier "1000534" xsd:string
hasExactSynonym "NBIA1" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf
rdfs:label "NBIA1" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000511
http://nanbyodata.jp/ontology/nanbyo#1000535 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "120" xsd:string
dcterms:identifier "1000535" xsd:string
hasExactSynonym "Classical pantothenate kinase-associated neurodegeneration" @en
hasExactSynonym "Hallervorden-Spatz syndrome " @en
hasExactSynonym "classical PKAN" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf
rdfs:label "パントテン酸キナーゼ変異に伴う神経変性症(古典型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000534
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009319
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "120" xsd:string
dcterms:identifier "1000536" xsd:string
hasExactSynonym "Atypical PKAN" @en
hasExactSynonym "Atypical pantothenate kinase-associated neurodegeneration" @en
hasExactSynonym "Hallervorden-Spatz syndrome " @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf
rdfs:label "パントテン酸キナーゼ変異に伴う神経変性症(非典型例)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000534
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009319
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016305
http://nanbyodata.jp/ontology/nanbyo#1000537 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "120" xsd:string
dcterms:identifier "1000537" xsd:string
hasExactSynonym "Classical INAD" @en
hasExactSynonym "Classical Infantile neuroaxonal dystrophy" @en
hasExactSynonym "NBIA2a" @en
hasExactSynonym "乳児神経軸索ジストロフィー(古典型)" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf
rdfs:label "NBIA2a" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000511
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0024457
http://nanbyodata.jp/ontology/nanbyo#1000538 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "120" xsd:string
dcterms:identifier "1000538" xsd:string
hasExactSynonym "Atypical INAD" @en
hasExactSynonym "Atypical Infantile neuroaxonal dystrophy" @en
hasExactSynonym "NBIA2b" @en
hasExactSynonym "乳児神経軸索ジストロフィー(非典型例)" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf
rdfs:label "NBIA2b" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000511
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012444
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "120" xsd:string
dcterms:identifier "1000539" xsd:string
hasExactSynonym "NBIA3" @en
hasExactSynonym "Neuroferritinopathy" @en
hasExactSynonym "神経フェリチン症" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf
rdfs:label "NBIA3" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000511
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011638
http://nanbyodata.jp/ontology/nanbyo#1000540 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "120" xsd:string
dcterms:identifier "1000540" xsd:string
hasExactSynonym "Aceruloplasminemia" @en
hasExactSynonym "Hereditary ceruloplasmin deficiency " @en
hasExactSynonym "NBIA4" @en
hasExactSynonym "無セルロプラスミン血症" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf
rdfs:label "NBIA4" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000511
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011426
http://nanbyodata.jp/ontology/nanbyo#1000541 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "120" xsd:string
dcterms:identifier "1000541" xsd:string
hasExactSynonym "FAHN" @en
hasExactSynonym "Fatty Acid Hydroxylase-associated neurodegeneration" @en
hasExactSynonym "dysmyelinating leukodystrophy and spastic paraparasis with or without dystonia, spastic paraplegia 35" @en
hasExactSynonym "脂肪酸水酸化酵素変異に伴う神経変性症" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/120-201704-kojin.pdf
rdfs:label "FAHN" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000511
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012866
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017999
http://nanbyodata.jp/ontology/nanbyo#1000542 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "121" xsd:string
dcterms:identifier "1000542" xsd:string
hasExactSynonym "Neuroferritinopathy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/121-201704-kojin.pdf
rdfs:label "神経フェリチン症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011638
http://nanbyodata.jp/ontology/nanbyo#1000543 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "122" xsd:string
dcterms:identifier "1000543" xsd:string
hasExactSynonym "Brain table hemosiderosis" @en
hasExactSynonym "Superficial siderosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/122-201704-kojin.pdf
rdfs:label "脳表ヘモジデリン沈着症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016594
http://nanbyodata.jp/ontology/nanbyo#1000544 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "123" xsd:string
dcterms:identifier "1000544" xsd:string
hasExactSynonym "Autosomal recessive leukoencephalopathy with baldness and degenerative spondylosis" @en
hasExactSynonym "Cerebral autosomal recessive arteriopathy" @en
hasExactSynonym "Cerebral autosomal recessive arteriopathy with baldness and degenerative spondylosis" @en
hasExactSynonym "Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/123-201704-kojin.pdf
rdfs:label "禿頭と変形性脊椎症を伴う常染色体劣性白質脳症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010829
http://nanbyodata.jp/ontology/nanbyo#1000545 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "124" xsd:string
dcterms:identifier "1000545" xsd:string
hasExactSynonym "Autosomal dominant cerebral artery disease with subcortical infarct and leukoencephalopathy" @en
hasExactSynonym "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/124-201704-kojin.pdf
rdfs:label "皮質下梗塞と白質脳症を伴う常染色体優性脳動脈症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007432
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has_notification_number "125" xsd:string
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hasExactSynonym "Hereditary diffuse leukoencephalopathy with spheroid" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/125-201704-kojin.pdf
rdfs:label "神経軸索スフェロイド形成を伴う遺伝性びまん性白質脳症" @ja
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has_notification_number "126" xsd:string
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hasExactSynonym "Perry syndrome" @en
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rdfs:label "ペリー症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008201
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "127" xsd:string
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hasExactSynonym "Frontotemporal lobar degeneration" @en
rdfs:isDefinedBy file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl
rdfs:label "前頭側頭葉変性症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017276
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "127" xsd:string
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hasExactSynonym "Behavioral variant frontotemporal dementia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/127-01-201704-kojin.pdf
rdfs:label "(行動異常型)前頭側頭型認知症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000548
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017160
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "127" xsd:string
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hasExactSynonym "Semantic dementia" @en
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rdfs:label "意味性認知症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000548
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010857
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has_notification_number "128" xsd:string
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hasExactSynonym "Bickerstaff Brainstem encephalitis" @en
hasExactSynonym "Vickers staff brainstem encephalitis" @en
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rdfs:label "ビッカースタッフ脳幹脳炎" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019208
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "129" xsd:string
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hasExactSynonym "Acute encephalopathy with biphasic seizures and late reduced diffusion" @en
hasExactSynonym "Epilepticus type acute encphalopathy" @en
hasExactSynonym "Epilepticus type biphasic acute encphalopathy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/129-201704-kojin.pdf
rdfs:label "痙攣重積型(二相性)急性脳症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018198
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has_notification_number "130" xsd:string
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hasExactSynonym "Congenital insensitivity to pain with anhidrosis" @en
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rdfs:label "先天性無痛無汗症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009746
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hasExactSynonym "Alexander disease" @en
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rdfs:label "アレキサンダー病" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008752
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hasExactSynonym "cerebral Alexander disease" @en
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rdfs:label "大脳優位型アレキサンダー病" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018209
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hasExactSynonym "bulbospinal Alexander disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/131-201704-kojin.pdf
rdfs:label "延髄・脊髄優位型アレキサンダー病" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018210
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hasExactSynonym "3型アレキサンダー病" @ja
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rdfs:label "中間型アレキサンダー病" @ja
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has_notification_number "132" xsd:string
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hasExactSynonym "Congenital suprabulbar paresis" @en
hasExactSynonym "Congenital supranuclear bulbar palsy" @en
hasExactSynonym "Worcester drought syndrome" @en
hasExactSynonym "Worster-Drought syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/132-201704-kojin.pdf
rdfs:label "先天性核上性球麻痺" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008503
http://nanbyodata.jp/ontology/nanbyo#1000559 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "133" xsd:string
dcterms:identifier "1000559" xsd:string
hasExactSynonym "Moebius syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/133-201704-kojin.pdf
rdfs:label "メビウス症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008006
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000012
has_notification_number "134" xsd:string
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hasExactSynonym "Septo-optic dysplasia/De Morsier syndrome" @en
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rdfs:label "中隔視神経形成異常症/ドモルシア症候群" @ja
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hasExactSynonym "" @en
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rdfs:label "中隔視神経形成異常症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
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has_notification_number "135" xsd:string
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hasExactSynonym "Aicardi syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/135-201704-kojin.pdf
rdfs:label "アイカルディ症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010568
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has_notification_number "136" xsd:string
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hasExactSynonym "Hemimegalencephaly" @en
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rdfs:label "片側巨脳症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020492
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hasExactSynonym "Focal cortical dysplasia" @en
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rdfs:label "限局性皮質異形成" @ja
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hasExactSynonym "Focal cortical dysplasia type 1a" @en
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rdfs:label "FCD タイプ1a" @ja
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hasExactSynonym "Focal cortical dysplasia type 1c" @en
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hasExactSynonym "Focal cortical dysplasia type 2a" @en
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011818
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hasExactSynonym "Focal cortical dysplasia type 3a" @en
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rdfs:label "FCD タイプ3a" @ja
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rdfs:label "FCD タイプ3b" @ja
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has_notification_number "137" xsd:string
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hasExactSynonym "Focal cortical dysplasia type 3c" @en
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rdfs:label "FCD タイプ3c" @ja
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has_notification_number "137" xsd:string
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hasExactSynonym "Focal cortical dysplasia type 3d" @en
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rdfs:label "FCD タイプ3d" @ja
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "138" xsd:string
dcterms:identifier "1000574" xsd:string
hasExactSynonym "Lissencephaly" @en
hasExactSynonym "Nerve cell migration disorders" @en
hasExactSynonym "Neuronal migration defect" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/138-201704-kojin.pdf
rdfs:label "神経細胞移動異常症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018838
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "139" xsd:string
dcterms:identifier "1000575" xsd:string
hasExactSynonym "Congenital cerebral hypomyelination" @en
hasExactSynonym "Congenital cerebral white matter aplasia" @en
rdfs:isDefinedBy file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl
rdfs:label "先天性大脳白質形成不全症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "139" xsd:string
dcterms:identifier "1000576" xsd:string
hasExactSynonym "Pelizaeus-Merzbacher disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/139-01-201704-kojin.pdf
rdfs:label "ペリツェウス・メルツバッハ病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000575
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010714
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has_notification_number "139" xsd:string
dcterms:identifier "1000577" xsd:string
hasExactSynonym "Pelizaeus-Merzbacher like disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/139-02-201704-kojin.pdf
rdfs:label "ペリツェウス・メルツバッハ様病1" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000575
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017226
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "139" xsd:string
dcterms:identifier "1000578" xsd:string
hasExactSynonym "Hypomyelination with atrophy of the basal ganglia and cerebellum" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/139-03-201704-kojin.pdf
rdfs:label "基底核および小脳萎縮を伴う髄鞘形成不全症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000575
http://nanbyodata.jp/ontology/nanbyo#1000579 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "139" xsd:string
dcterms:identifier "1000579" xsd:string
hasExactSynonym "18q-syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/139-04-201704-kojin.pdf
rdfs:label "18q欠失症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000575
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011147
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has_notification_number "139" xsd:string
dcterms:identifier "1000580" xsd:string
hasExactSynonym "Allan-Herndon-Dudley syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/139-05-201704-kojin.pdf
rdfs:label "アラン・ハーンドン・タドリー症候群" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010354
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has_notification_number "139" xsd:string
dcterms:identifier "1000581" xsd:string
hasExactSynonym "Mitochondrial Hsp60 chaperonopathy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/139-06-201704-kojin.pdf
rdfs:label "HSP60 chaperon病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000575
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012824
http://nanbyodata.jp/ontology/nanbyo#1000582 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "139" xsd:string
dcterms:identifier "1000582" xsd:string
hasExactSynonym "Salla disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/139-07-201704-kojin.pdf
rdfs:label "サラ病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000575
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011449
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "139" xsd:string
dcterms:identifier "1000583" xsd:string
hasExactSynonym "Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/139-08-201704-kojin.pdf
rdfs:label "小脳萎縮と脳梁低形成を伴うび漫性大脳白質形成不全症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000575
http://nanbyodata.jp/ontology/nanbyo#1000584 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "139" xsd:string
dcterms:identifier "1000584" xsd:string
hasExactSynonym "Hypomyelination and congenital cataract" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/139-09-201704-kojin.pdf
rdfs:label "先天性白内障を伴う髄鞘形成不全症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000575
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012514
http://nanbyodata.jp/ontology/nanbyo#1000585 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "139" xsd:string
dcterms:identifier "1000585" xsd:string
hasExactSynonym "Ataxia, delayed dentition, and hypomyelination" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/139-10-201704-kojin.pdf
rdfs:label "失調、歯牙低形成を伴う髄鞘形成不全症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000575
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011897
http://nanbyodata.jp/ontology/nanbyo#1000586 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "139" xsd:string
dcterms:identifier "1000586" xsd:string
hasExactSynonym "PCWH" @en
hasExactSynonym "Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/139-11-201704-kojin.pdf
rdfs:label "脱髄型末梢神経障害、中枢性髄鞘形成不全症、ワーデンバーグ症候群、ヒルシュスプルング病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000575
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012198
http://nanbyodata.jp/ontology/nanbyo#1000587 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "140" xsd:string
dcterms:identifier "1000587" xsd:string
hasExactSynonym "Dorabe syndrome" @en
hasExactSynonym "Dravet syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/140-201704-kojin.pdf
rdfs:label "ドラベ症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011794
http://nanbyodata.jp/ontology/nanbyo#1000588 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "141" xsd:string
dcterms:identifier "1000588" xsd:string
hasExactSynonym "Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis" @en
hasExactSynonym "Mesial temporal lobe epilepsy with hippocampal sclerosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/141-201704-kojin.pdf
rdfs:label "海馬硬化を伴う内側側頭葉てんかん" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020476
http://nanbyodata.jp/ontology/nanbyo#1000589 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "142" xsd:string
dcterms:identifier "1000589" xsd:string
hasExactSynonym "Myoclonic absence epilepsy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/142-201704-kojin.pdf
rdfs:label "ミオクロニー欠神てんかん" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000590 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "143" xsd:string
dcterms:identifier "1000590" xsd:string
hasExactSynonym "Epilepsy with myoclonic cataplexy" @en
hasExactSynonym "Epilepsy with myoclonic-atonic seizures" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/143-201704-kojin.pdf
rdfs:label "ミオクロニー脱力発作を伴うてんかん" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016025
http://nanbyodata.jp/ontology/nanbyo#1000591 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "144" xsd:string
dcterms:identifier "1000591" xsd:string
hasExactSynonym "Lennox-Gastaut syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/144-201704-kojin.pdf
rdfs:label "レノックス・ガストー症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016532
http://nanbyodata.jp/ontology/nanbyo#1000592 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "145" xsd:string
dcterms:identifier "1000592" xsd:string
hasExactSynonym "Infantile spasms" @en
hasExactSynonym "West syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/145-201704-kojin.pdf
rdfs:label "ウエスト症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018097
http://nanbyodata.jp/ontology/nanbyo#1000593 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "146" xsd:string
dcterms:identifier "1000593" xsd:string
hasExactSynonym "Early infantile epileptic encephalopathy with suppression burst" @en
hasExactSynonym "Ohtahara syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/146-201704-kojin.pdf
rdfs:label "大田原症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016021
http://nanbyodata.jp/ontology/nanbyo#1000594 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "147" xsd:string
dcterms:identifier "1000594" xsd:string
hasExactSynonym "Early myoclonic encephalopathy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/147-201704-kojin.pdf
rdfs:label "早期ミオクロニー脳症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016022
http://nanbyodata.jp/ontology/nanbyo#1000595 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "148" xsd:string
dcterms:identifier "1000595" xsd:string
hasExactSynonym "Epilepsy of infancy with migrating focal seizures" @en
hasExactSynonym "Infant epilepsy with migratory focus seizure" @en
hasExactSynonym "Migrating partial seizures in infancy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/148-201704-kojin.pdf
rdfs:label "遊走性焦点発作を伴う乳児てんかん" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017385
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0100025
http://nanbyodata.jp/ontology/nanbyo#1000596 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "149" xsd:string
dcterms:identifier "1000596" xsd:string
hasExactSynonym "Hemiconvulsion hemiplegia epilepsy syndrome" @en
hasExactSynonym "One side convulsions, hemiplegia - epilepsy syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/149-201704-kojin.pdf
rdfs:label "片側痙攣・片麻痺・てんかん症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019485
http://nanbyodata.jp/ontology/nanbyo#1000597 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "150" xsd:string
dcterms:identifier "1000597" xsd:string
hasExactSynonym "Ring chromosome 20 epilepsy syndrome" @en
hasExactSynonym "Ring chromosome 20 syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/150-201704-kojin.pdf
rdfs:label "環状20番染色体症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015436
http://nanbyodata.jp/ontology/nanbyo#1000598 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "151" xsd:string
dcterms:identifier "1000598" xsd:string
hasExactSynonym "Rasmussen encephalitis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/151-201704-kojin.pdf
rdfs:label "ラスムッセン脳炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016019
http://nanbyodata.jp/ontology/nanbyo#1000599 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "152" xsd:string
dcterms:identifier "1000599" xsd:string
hasExactSynonym "Epilepsy and mental retardation limited to females" @en
hasExactSynonym "PCDH19 Epilepsy" @en
hasExactSynonym "PCDH19 related syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/152-201704-kojin.pdf
rdfs:label "PCDH19関連症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010246
http://nanbyodata.jp/ontology/nanbyo#1000600 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "153" xsd:string
dcterms:identifier "1000600" xsd:string
hasExactSynonym "Acute encephalitis with refractory, repetitive partial seizures" @en
hasExactSynonym "Refractory frequent partial seizures intussusception acute encephalitis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/153-201704-kojin.pdf
rdfs:label "難治頻回部分発作重積型急性脳炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015584
http://nanbyodata.jp/ontology/nanbyo#1000601 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "154" xsd:string
dcterms:identifier "1000601" xsd:string
hasExactSynonym "Epilepsy with continuous spikes and waves during slow sleep" @en
hasExactSynonym "Epileptic encephalopathy with continuous spike-and-wave during sleep" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/154-201704-kojin.pdf
rdfs:label "徐波睡眠期持続性棘徐波を示すてんかん性脳症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000602 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "155" xsd:string
dcterms:identifier "1000602" xsd:string
hasExactSynonym "Acquired aphasia with convulsive disorder" @en
hasExactSynonym "Landau-Kleffner syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/155-201704-kojin.pdf
rdfs:label "ランドウ・クレフナー症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009509
http://nanbyodata.jp/ontology/nanbyo#1000603 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "156" xsd:string
dcterms:identifier "1000603" xsd:string
hasExactSynonym "Rett syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/156-201704-kojin.pdf
rdfs:label "レット症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010726
http://nanbyodata.jp/ontology/nanbyo#1000604 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "156" xsd:string
dcterms:identifier "1000604" xsd:string
hasExactSynonym "" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/156-201704-kojin.pdf
rdfs:label "典型的レット症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000603
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
http://nanbyodata.jp/ontology/nanbyo#1000605 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "156" xsd:string
dcterms:identifier "1000605" xsd:string
hasExactSynonym "Atypical Rett syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/156-201704-kojin.pdf
rdfs:label "非典型的レット症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000603
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017746
http://nanbyodata.jp/ontology/nanbyo#1000606 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "157" xsd:string
dcterms:identifier "1000606" xsd:string
hasExactSynonym "Sturge-Weber syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/157-201704-kojin.pdf
rdfs:label "スタージ・ウェーバー症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008501
http://nanbyodata.jp/ontology/nanbyo#1000607 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "158" xsd:string
dcterms:identifier "1000607" xsd:string
hasExactSynonym "Tuberous sclerosis" @en
hasExactSynonym "Tuberous sclerosis complex" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/158-201704-kojin.pdf
rdfs:label "結節性硬化症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0001734
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008612
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019341
http://nanbyodata.jp/ontology/nanbyo#1000608 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "159" xsd:string
dcterms:identifier "1000608" xsd:string
hasExactSynonym "Xeroderma pigmentosum" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/159-201704-kojin.pdf
rdfs:label "色素性乾皮症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000609 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "160" xsd:string
dcterms:identifier "1000609" xsd:string
hasExactSynonym "Congenital ichthyosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf
rdfs:label "先天性魚鱗癬" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015947
http://nanbyodata.jp/ontology/nanbyo#1000610 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "160" xsd:string
dcterms:identifier "1000610" xsd:string
hasExactSynonym "Keratinopathic ichthyosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf
rdfs:label "ケラチン症性魚鱗癬" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000609
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017266
http://nanbyodata.jp/ontology/nanbyo#1000611 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "160" xsd:string
dcterms:identifier "1000611" xsd:string
hasExactSynonym "Autosomal dominant epidermolytic ichthyosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf
rdfs:label "常染色体優性表皮融解性魚鱗癬" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000610
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007239
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020702
http://nanbyodata.jp/ontology/nanbyo#1000612 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "160" xsd:string
dcterms:identifier "1000612" xsd:string
hasExactSynonym "Autosomal recessive epidermolytic ichthyosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf
rdfs:label "常染色体劣性表皮融解性魚鱗癬" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000610
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0044742
http://nanbyodata.jp/ontology/nanbyo#1000613 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "160" xsd:string
dcterms:identifier "1000613" xsd:string
hasExactSynonym "Superficial epidermolytic ichthyosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf
rdfs:label "表在性表皮融解性魚鱗癬" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000610
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007813
http://nanbyodata.jp/ontology/nanbyo#1000614 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "160" xsd:string
dcterms:identifier "1000614" xsd:string
hasExactSynonym "Harlequin ichthyosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf
rdfs:label "道化師様魚鱗癬" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000609
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009443
http://nanbyodata.jp/ontology/nanbyo#1000615 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "160" xsd:string
dcterms:identifier "1000615" xsd:string
hasExactSynonym "Autosomal recessive congenital ichthyosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf
rdfs:label "道化師様魚鱗癬以外の常染色体劣性遺伝性魚鱗癬" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000609
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017265
http://nanbyodata.jp/ontology/nanbyo#1000616 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "160" xsd:string
dcterms:identifier "1000616" xsd:string
hasExactSynonym "Congenital Ichthyosiform Erythroderma" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf
rdfs:label "先天性魚鱗癬様紅皮症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000615
http://nanbyodata.jp/ontology/nanbyo#1000617 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "160" xsd:string
dcterms:identifier "1000617" xsd:string
hasExactSynonym "Lamellar ichthyosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf
rdfs:label "葉状魚鱗癬" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000615
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017778
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019306
http://nanbyodata.jp/ontology/nanbyo#1000618 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "160" xsd:string
dcterms:identifier "1000618" xsd:string
hasExactSynonym "Ichthyosis syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf
rdfs:label "魚鱗癬症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000609
http://nanbyodata.jp/ontology/nanbyo#1000619 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "160" xsd:string
dcterms:identifier "1000619" xsd:string
hasExactSynonym "Netherton syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf
rdfs:label "ネザートン症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000618
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009735
http://nanbyodata.jp/ontology/nanbyo#1000620 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "160" xsd:string
dcterms:identifier "1000620" xsd:string
hasExactSynonym "Sjogren-Larsson syndrome" @en
hasExactSynonym "Sjögren-Larsson syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf
rdfs:label "シェーグレン・ラルソン症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000618
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010031
http://nanbyodata.jp/ontology/nanbyo#1000621 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "160" xsd:string
dcterms:identifier "1000621" xsd:string
hasExactSynonym "KID syndrome" @en
hasExactSynonym "Keratitis-ichthyosis-deafness syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf
rdfs:label "KID症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000618
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018781
http://nanbyodata.jp/ontology/nanbyo#1000622 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "160" xsd:string
dcterms:identifier "1000622" xsd:string
hasExactSynonym "Chanarin-Dorfman Syndrome" @en
hasExactSynonym "Dorfman-Chanarin syndrome" @en
hasExactSynonym "Neutral lipid storage disease with ichthyosis" @en
hasExactSynonym "中性脂肪蓄積症" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf
rdfs:label "ドルフマン・シャナリン症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000618
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010155
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015611
http://nanbyodata.jp/ontology/nanbyo#1000623 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "160" xsd:string
dcterms:identifier "1000623" xsd:string
hasExactSynonym "Multiple sulfatase deficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf
rdfs:label "多発性スルファターゼ欠損症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000618
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010088
http://nanbyodata.jp/ontology/nanbyo#1000624 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "160" xsd:string
dcterms:identifier "1000624" xsd:string
hasExactSynonym "Recessive X-linked ichtyosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf
rdfs:label "X連鎖性劣性魚鱗癬症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000618
http://nanbyodata.jp/ontology/nanbyo#1000625 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "160" xsd:string
dcterms:identifier "1000625" xsd:string
hasExactSynonym "IBID" @en
hasExactSynonym "ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf
rdfs:label "IBID" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000618
http://nanbyodata.jp/ontology/nanbyo#1000626 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "160" xsd:string
dcterms:identifier "1000626" xsd:string
hasExactSynonym "Trichothiodystrophy" @en
hasExactSynonym "Trichothiodystrophy" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf
rdfs:label "硫黄欠乏性毛髪発育異常症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000618
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002470
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018053
http://nanbyodata.jp/ontology/nanbyo#1000627 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "160" xsd:string
dcterms:identifier "1000627" xsd:string
hasExactSynonym "Ichthyosis Follicularis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf
rdfs:label "毛包性魚鱗癬" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000618
http://nanbyodata.jp/ontology/nanbyo#1000628 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "160" xsd:string
dcterms:identifier "1000628" xsd:string
hasExactSynonym "CHILD syndrome" @en
hasExactSynonym "congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf
rdfs:label "CHILD症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000618
http://nanbyodata.jp/ontology/nanbyo#1000629 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "160" xsd:string
dcterms:identifier "1000629" xsd:string
hasExactSynonym "Conradi Hunermann Happle syndrome" @en
hasExactSynonym "Conradi Hünermann Happle syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/160-201704-kojin.pdf
rdfs:label "Conradi-Hünermann-Happle 症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000618
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020603
http://nanbyodata.jp/ontology/nanbyo#1000630 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "161" xsd:string
dcterms:identifier "1000630" xsd:string
hasExactSynonym "Benign familial pemphigus" @en
hasExactSynonym "Familial benign chronic pemphigus" @en
hasExactSynonym "Hailey-Hailey disease" @en
hasExactSynonym "ヘイリー・ヘイリー病" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/161-201704-kojin.pdf
rdfs:label "家族性良性慢性天疱瘡" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008218
http://nanbyodata.jp/ontology/nanbyo#1000631 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "162" xsd:string
dcterms:identifier "1000631" xsd:string
hasExactSynonym "Pemphigoid" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/162-201704-kojin.pdf
rdfs:label "類天疱瘡" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019082
http://nanbyodata.jp/ontology/nanbyo#1000632 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "162" xsd:string
dcterms:identifier "1000632" xsd:string
hasExactSynonym "Epidermolysis bullosa acquisita" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/162-201704-kojin.pdf
rdfs:label "後天性表皮水疱症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000631
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018747
http://nanbyodata.jp/ontology/nanbyo#1000633 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "163" xsd:string
dcterms:identifier "1000633" xsd:string
hasExactSynonym "Acquired idiopathic generalized anhidrosis" @en
hasExactSynonym "Idiopathic acquired systemic anhidrosis" @en
hasExactSynonym "Idiopathic pure sudomotor failure" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/163-201704-kojin.pdf
rdfs:label "特発性後天性全身性無汗症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000634 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000012
has_notification_number "164" xsd:string
dcterms:identifier "1000634" xsd:string
hasExactSynonym "Oculocutaneous albinism" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/164-201704-kojin.pdf
rdfs:label "眼皮膚白皮症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018910
http://nanbyodata.jp/ontology/nanbyo#1000635 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000012
has_notification_number "164" xsd:string
dcterms:identifier "1000635" xsd:string
hasExactSynonym "Hermansky-Pudlak syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/164-201704-kojin.pdf
rdfs:label "ヘルマンスキー・パドラック症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000634
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019312
http://nanbyodata.jp/ontology/nanbyo#1000636 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000012
has_notification_number "164" xsd:string
dcterms:identifier "1000636" xsd:string
hasExactSynonym "Chédiak-Higashi syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/164-201704-kojin.pdf
rdfs:label "チェディアック・東症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000634
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008963
http://nanbyodata.jp/ontology/nanbyo#1000637 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000012
has_notification_number "164" xsd:string
dcterms:identifier "1000637" xsd:string
hasExactSynonym "Griscelli syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/164-201704-kojin.pdf
rdfs:label "グリセリ症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000634
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018306
http://nanbyodata.jp/ontology/nanbyo#1000638 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000012
has_notification_number "164" xsd:string
dcterms:identifier "1000638" xsd:string
hasExactSynonym "non-syndromic oculocutaneous albinism" @en
hasExactSynonym "非症候性眼皮膚白皮症" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/164-201704-kojin.pdf
rdfs:label "非症候型の眼皮膚白皮症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000634
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018910
http://nanbyodata.jp/ontology/nanbyo#1000639 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "165" xsd:string
dcterms:identifier "1000639" xsd:string
hasExactSynonym "Pachydermoperiostosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/165-201704-kojin.pdf
rdfs:label "肥厚性皮膚骨膜症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009799
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016620
http://nanbyodata.jp/ontology/nanbyo#1000640 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "166" xsd:string
dcterms:identifier "1000640" xsd:string
hasExactSynonym "Pseudoxanthoma elasticum" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/166-201704-kojin.pdf
rdfs:label "弾性線維性仮性黄色腫" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009925
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0024308
http://nanbyodata.jp/ontology/nanbyo#1000641 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "167" xsd:string
dcterms:identifier "1000641" xsd:string
hasExactSynonym "Marfan syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/167-201704-kojin.pdf
rdfs:label "マルファン症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007947
http://nanbyodata.jp/ontology/nanbyo#1000642 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "168" xsd:string
dcterms:identifier "1000642" xsd:string
hasExactSynonym "Ehlers-Danlos Syndrome" @en
rdfs:isDefinedBy file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl
rdfs:label "エーラス・ダンロス症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020066
http://nanbyodata.jp/ontology/nanbyo#1000643 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "168" xsd:string
dcterms:identifier "1000643" xsd:string
hasExactSynonym "Ehlers-Danlos Syndrome (Classical type)" @en
hasExactSynonym "Ehlers-Danlos syndrome, classic type" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/168-01-201704-kojin.pdf
rdfs:label "古典型エーラス・ダンロス症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000642
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007522
http://nanbyodata.jp/ontology/nanbyo#1000644 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "168" xsd:string
dcterms:identifier "1000644" xsd:string
hasExactSynonym "Ehlers-Danlos Syndrome (Hypermobility type)" @en
hasExactSynonym "Ehlers-Danlos syndrome, hypermobility type" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/168-02-201704-kojin.pdf
rdfs:label "関節型エーラス・ダンロス症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000642
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007523
http://nanbyodata.jp/ontology/nanbyo#1000645 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "168" xsd:string
dcterms:identifier "1000645" xsd:string
hasExactSynonym "Ehlers-Danlos Syndrome (Vascular type)" @en
hasExactSynonym "Ehlers-Danlos syndrome, vascular type" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/168-03-201704-kojin.pdf
rdfs:label "血管型エーラス・ダンロス症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000642
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007524
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017314
http://nanbyodata.jp/ontology/nanbyo#1000646 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "168" xsd:string
dcterms:identifier "1000646" xsd:string
hasExactSynonym "Ehlers-Danlos Syndrome (Kyphoscoliosis tyep)" @en
hasExactSynonym "Ehlers-Danlos syndrome, kyphoscoliotic type" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/168-04-201704-kojin.pdf
rdfs:label "後側彎型エーラス・ダンロス症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000642
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016002
http://nanbyodata.jp/ontology/nanbyo#1000647 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "168" xsd:string
dcterms:identifier "1000647" xsd:string
hasExactSynonym "Ehlers-Danlos Syndrome (Arthrochalasia type)" @en
hasExactSynonym "Ehlers-Danlos syndrome, arthrochalasis type" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/168-05-201704-kojin.pdf
rdfs:label "多発関節弛緩型エーラス・ダンロス症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000642
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007525
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009159
http://nanbyodata.jp/ontology/nanbyo#1000648 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "168" xsd:string
dcterms:identifier "1000648" xsd:string
hasExactSynonym "Ehlers-Danlos Syndrome (Dermatosparaxis type)" @en
hasExactSynonym "Ehlers-Danlos syndrome, dermatosparaxis type" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/168-06-201704-kojin.pdf
rdfs:label "皮膚脆弱型エーラス・ダンロス症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000642
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009161
http://nanbyodata.jp/ontology/nanbyo#1000649 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "168" xsd:string
dcterms:identifier "1000649" xsd:string
hasExactSynonym "Dermatan 4-O-sulfotransferase 1 Deficient Ehlers-Danlos Syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/168-07-201704-kojin.pdf
rdfs:label "デルマタン4-O-硫酸基転移酵素-1欠損型エーラス・ダンロス症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000642
http://nanbyodata.jp/ontology/nanbyo#1000650 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "169" xsd:string
dcterms:identifier "1000650" xsd:string
hasExactSynonym "Menkes disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/169-201704-kojin.pdf
rdfs:label "メンケス病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010651
http://nanbyodata.jp/ontology/nanbyo#1000651 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000004
has_notification_number "170" xsd:string
dcterms:identifier "1000651" xsd:string
hasExactSynonym "Occipital horn syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/170-201704-kojin.pdf
rdfs:label "オクシピタル・ホーン症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010572
http://nanbyodata.jp/ontology/nanbyo#1000652 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "171" xsd:string
dcterms:identifier "1000652" xsd:string
hasExactSynonym "Wilson disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/171-201704-kojin.pdf
rdfs:label "ウィルソン病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010200
http://nanbyodata.jp/ontology/nanbyo#1000653 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000009
has_notification_number "172" xsd:string
dcterms:identifier "1000653" xsd:string
hasExactSynonym "Hypophosphatasia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/172-201704-kojin.pdf
rdfs:label "低ホスファターゼ症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018570
http://nanbyodata.jp/ontology/nanbyo#1000654 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "173" xsd:string
dcterms:identifier "1000654" xsd:string
hasExactSynonym "VATER association" @en
hasExactSynonym "VATER syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/173-201704-kojin.pdf
rdfs:label "VATER症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008642
http://nanbyodata.jp/ontology/nanbyo#1000655 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "174" xsd:string
dcterms:identifier "1000655" xsd:string
hasExactSynonym "Nasu-Hakola disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/174-201704-kojin.pdf
rdfs:label "那須・ハコラ病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009092
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "175" xsd:string
dcterms:identifier "1000656" xsd:string
hasExactSynonym "Weaver syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/175-201704-kojin.pdf
rdfs:label "ウィーバー症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010193
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "176" xsd:string
dcterms:identifier "1000657" xsd:string
hasExactSynonym "Coffin-Lowry syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/176-201704-kojin.pdf
rdfs:label "コフィン・ローリー症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010561
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "177" xsd:string
dcterms:identifier "1000658" xsd:string
hasExactSynonym "Cerebro-oculo-hepato-renal syndrome" @en
hasExactSynonym "Joubert Syndrome and related disorders" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/177-201804-kojin.pdf
rdfs:label "ジュベール疾患群関連疾患" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009480
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015369
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "177" xsd:string
dcterms:identifier "1000659" xsd:string
hasExactSynonym "Arima syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/177-201804-kojin.pdf
rdfs:label "有馬症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000658
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009480
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "177" xsd:string
dcterms:identifier "1000660" xsd:string
hasExactSynonym "Cerebro-oculo-hepato-renal syndrome" @en
hasExactSynonym "Joubert Syndrome and related disorders" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/177-201804-kojin.pdf
rdfs:label "ジュベール疾患群関連疾患" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000658
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009480
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015369
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "178" xsd:string
dcterms:identifier "1000661" xsd:string
hasExactSynonym "Mowat-Wilson syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/178-201704-kojin.pdf
rdfs:label "モワット・ウィルソン症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009341
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "179" xsd:string
dcterms:identifier "1000662" xsd:string
hasExactSynonym "Williams syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/179-201704-kojin.pdf
rdfs:label "ウィリアムズ症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008678
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "180" xsd:string
dcterms:identifier "1000663" xsd:string
hasExactSynonym "ATR-X syndrome" @en
hasExactSynonym "Alpha-thalassemia mental retardation syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/180-201704-kojin.pdf
rdfs:label "ATR−X症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007716
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010519
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "181" xsd:string
dcterms:identifier "1000664" xsd:string
hasExactSynonym "Crouzon syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/181-201704-kojin.pdf
rdfs:label "クルーゾン症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007405
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "182" xsd:string
dcterms:identifier "1000665" xsd:string
hasExactSynonym "Apert syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/182-201704-kojin.pdf
rdfs:label "アペール症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007041
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019796
http://nanbyodata.jp/ontology/nanbyo#1000666 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "183" xsd:string
dcterms:identifier "1000666" xsd:string
hasExactSynonym "Pfeiffer syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/183-201704-kojin.pdf
rdfs:label "ファイファー症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005810
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007043
http://nanbyodata.jp/ontology/nanbyo#1000667 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "184" xsd:string
dcterms:identifier "1000667" xsd:string
hasExactSynonym "Antley-Bixler syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/184-201704-kojin.pdf
rdfs:label "アントレー・ビクスラー症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008803
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "185" xsd:string
dcterms:identifier "1000668" xsd:string
hasExactSynonym "Coffin-Siris Syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/185-201704-kojin.pdf
rdfs:label "コフィン・シリス症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015452
http://nanbyodata.jp/ontology/nanbyo#1000669 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "186" xsd:string
dcterms:identifier "1000669" xsd:string
hasExactSynonym "Rothmund-Thomson syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/186-201704-kojin.pdf
rdfs:label "ロスムンド・トムソン症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010002
http://nanbyodata.jp/ontology/nanbyo#1000670 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "187" xsd:string
dcterms:identifier "1000670" xsd:string
hasExactSynonym "Kabuki syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/187-201704-kojin.pdf
rdfs:label "歌舞伎症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007843
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016512
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "188" xsd:string
dcterms:identifier "1000671" xsd:string
hasExactSynonym "Polysplenia syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/188-201704-kojin.pdf
rdfs:label "多脾症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008832
http://nanbyodata.jp/ontology/nanbyo#1000672 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "189" xsd:string
dcterms:identifier "1000672" xsd:string
hasExactSynonym "Asplenia syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/189-201704-kojin.pdf
rdfs:label "無脾症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008832
http://nanbyodata.jp/ontology/nanbyo#1000673 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000013
has_notification_number "190" xsd:string
dcterms:identifier "1000673" xsd:string
hasExactSynonym "BOR syndrome" @en
hasExactSynonym "Branchio-oto-renal syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/190-201704-kojin.pdf
rdfs:label "鰓耳腎症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007029
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018878
http://nanbyodata.jp/ontology/nanbyo#1000674 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "191" xsd:string
dcterms:identifier "1000674" xsd:string
hasExactSynonym "Werner syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/191-201704-kojin.pdf
rdfs:label "ウェルナー症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010196
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "192" xsd:string
dcterms:identifier "1000675" xsd:string
hasExactSynonym "Cockayne syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/192-201704-kojin.pdf
rdfs:label "コケイン症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016006
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "193" xsd:string
dcterms:identifier "1000676" xsd:string
hasExactSynonym "Prader-Willi syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/193-201704-kojin.pdf
rdfs:label "プラダー・ウィリ症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008300
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "194" xsd:string
dcterms:identifier "1000677" xsd:string
hasExactSynonym "Sotos syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/194-201704-kojin.pdf
rdfs:label "ソトス症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007299
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019349
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "195" xsd:string
dcterms:identifier "1000678" xsd:string
hasExactSynonym "Noonan syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/195-201704-kojin.pdf
rdfs:label "ヌーナン症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008104
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018997
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "196" xsd:string
dcterms:identifier "1000679" xsd:string
hasExactSynonym "Young-Simpson syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/196-201704-kojin.pdf
rdfs:label "ヤング・シンプソン症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011365
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017393
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "197" xsd:string
dcterms:identifier "1000680" xsd:string
hasExactSynonym "1p36 deletion syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/197-201704-kojin.pdf
rdfs:label "1p36欠失症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011929
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "198" xsd:string
dcterms:identifier "1000681" xsd:string
hasExactSynonym "4p deletion syndrome" @en
hasExactSynonym "4p-syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/198-201704-kojin.pdf
rdfs:label "4p欠失症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008684
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0022762
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "199" xsd:string
dcterms:identifier "1000682" xsd:string
hasExactSynonym "5p deletion syndrome" @en
hasExactSynonym "5p-syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/199-201704-kojin.pdf
rdfs:label "5p欠失症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007404
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008297
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "200" xsd:string
dcterms:identifier "1000683" xsd:string
hasExactSynonym "Kagami-Ogata syndrome" @en
hasExactSynonym "No. 14 chromosome father disomy syndrome" @en
hasExactSynonym "Paternal uniparental disomy of chromosome 14" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/200-201704-kojin.pdf
rdfs:label "第14番染色体父親性ダイソミー症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011975
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000002
has_notification_number "201" xsd:string
dcterms:identifier "1000684" xsd:string
hasExactSynonym "Angelman syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/201-201704-kojin.pdf
rdfs:label "アンジェルマン症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007113
http://nanbyodata.jp/ontology/nanbyo#1000685 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "202" xsd:string
dcterms:identifier "1000685" xsd:string
hasExactSynonym "Smith-Magenis syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/202-201704-kojin.pdf
rdfs:label "スミス・マギニス症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008434
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "203" xsd:string
dcterms:identifier "1000686" xsd:string
hasExactSynonym "22q11.2 deletion syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/203-201704-kojin.pdf
rdfs:label "22q11.2欠失症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008564
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018923
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "204" xsd:string
dcterms:identifier "1000687" xsd:string
hasExactSynonym "Emanuel syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/204-201704-kojin.pdf
rdfs:label "エマヌエル症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012176
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "205" xsd:string
dcterms:identifier "1000688" xsd:string
hasExactSynonym "Fragile X syndrome related diseases" @en
hasExactSynonym "Fragile X-associated tremor/ataxia syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/205-201704-kojin.pdf
rdfs:label "脆弱X症候群関連疾患" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010382
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has_notification_number "205" xsd:string
dcterms:identifier "1000689" xsd:string
hasExactSynonym "FXTAS" @en
hasExactSynonym "Fragile X tremor/ataxia syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/205-201704-kojin.pdf
rdfs:label "脆弱 X 随伴振戦/失調症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000688
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010382
http://nanbyodata.jp/ontology/nanbyo#1000690 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "206" xsd:string
dcterms:identifier "1000690" xsd:string
hasExactSynonym "Fragile X syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/206-201704-kojin.pdf
rdfs:label "脆弱X症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010383
http://nanbyodata.jp/ontology/nanbyo#1000691 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000006
has_notification_number "207" xsd:string
dcterms:identifier "1000691" xsd:string
hasExactSynonym "Persistent truncus arteriosus" @en
hasExactSynonym "Truncus arteriosus communis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/207-201704-kojin.pdf
rdfs:label "総動脈幹遺残症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016581
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018072
http://nanbyodata.jp/ontology/nanbyo#1000692 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000006
has_notification_number "207" xsd:string
dcterms:identifier "1000692" xsd:string
hasExactSynonym "Truncus arteriosus communis type I" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/207-201704-kojin.pdf
rdfs:label "総動脈幹遺残症(Ⅰ型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000691
http://nanbyodata.jp/ontology/nanbyo#1000693 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000006
has_notification_number "207" xsd:string
dcterms:identifier "1000693" xsd:string
hasExactSynonym "Truncus arteriosus communis type II" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/207-201704-kojin.pdf
rdfs:label "総動脈幹遺残症(Ⅱ型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000691
http://nanbyodata.jp/ontology/nanbyo#1000694 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000006
has_notification_number "207" xsd:string
dcterms:identifier "1000694" xsd:string
hasExactSynonym "Truncus arteriosus communis type III" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/207-201704-kojin.pdf
rdfs:label "総動脈幹遺残症(Ⅲ型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000691
http://nanbyodata.jp/ontology/nanbyo#1000695 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000006
has_notification_number "207" xsd:string
dcterms:identifier "1000695" xsd:string
hasExactSynonym "Truncus arteriosus communis type Ⅳ" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/207-201704-kojin.pdf
rdfs:label "総動脈幹遺残症(Ⅳ型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000691
http://nanbyodata.jp/ontology/nanbyo#1000696 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000006
has_notification_number "208" xsd:string
dcterms:identifier "1000696" xsd:string
hasExactSynonym "Corrected transposition of the great arteries" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/208-201704-kojin.pdf
rdfs:label "修正大血管転位症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000697 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000006
has_notification_number "209" xsd:string
dcterms:identifier "1000697" xsd:string
hasExactSynonym "Complete TGA" @en
hasExactSynonym "Complete transposition of the great arteries" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/209-201704-kojin.pdf
rdfs:label "完全大血管転位症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000698 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000006
has_notification_number "209" xsd:string
dcterms:identifier "1000698" xsd:string
hasExactSynonym "Complete transposition of the great arteries (Group1)" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/209-201704-kojin.pdf
rdfs:label "完全大血管転位症(Ⅰ型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000697
http://nanbyodata.jp/ontology/nanbyo#1000699 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000006
has_notification_number "209" xsd:string
dcterms:identifier "1000699" xsd:string
hasExactSynonym "Complete transposition of the great arteries (Group2)" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/209-201704-kojin.pdf
rdfs:label "完全大血管転位症(Ⅱ型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000697
http://nanbyodata.jp/ontology/nanbyo#1000700 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000006
has_notification_number "209" xsd:string
dcterms:identifier "1000700" xsd:string
hasExactSynonym "Complete transposition of the great arteries (Group3)" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/209-201704-kojin.pdf
rdfs:label "完全大血管転位症(Ⅲ型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000697
http://nanbyodata.jp/ontology/nanbyo#1000701 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000006
has_notification_number "209" xsd:string
dcterms:identifier "1000701" xsd:string
hasExactSynonym "Complete transposition of the great arteries (Group4)" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/209-201704-kojin.pdf
rdfs:label "完全大血管転位症(Ⅳ型)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000697
http://nanbyodata.jp/ontology/nanbyo#1000702 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000006
has_notification_number "210" xsd:string
dcterms:identifier "1000702" xsd:string
hasExactSynonym "Single ventricle heart defect" @en
hasExactSynonym "Univentricular heart" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/210-201704-kojin.pdf
rdfs:label "単心室症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015451
http://nanbyodata.jp/ontology/nanbyo#1000703 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000006
has_notification_number "211" xsd:string
dcterms:identifier "1000703" xsd:string
hasExactSynonym "Hypoplastic left heart syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/211-201704-kojin.pdf
rdfs:label "左心低形成症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0004933
http://nanbyodata.jp/ontology/nanbyo#1000704 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000006
has_notification_number "212" xsd:string
dcterms:identifier "1000704" xsd:string
hasExactSynonym "Tricuspid atresia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/212-201704-kojin.pdf
rdfs:label "三尖弁閉鎖症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011514
http://nanbyodata.jp/ontology/nanbyo#1000705 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000006
has_notification_number "213" xsd:string
dcterms:identifier "1000705" xsd:string
hasExactSynonym "Pulmonary atresia with intact ventricular septum" @en
hasExactSynonym "Pulmonary atresia without ventricular septum defect" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/213-201704-kojin.pdf
rdfs:label "心室中隔欠損を伴わない肺動脈閉鎖症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009931
http://nanbyodata.jp/ontology/nanbyo#1000706 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000006
has_notification_number "214" xsd:string
dcterms:identifier "1000706" xsd:string
hasExactSynonym "Pulmonary atresia with ventricular septal defect" @en
hasExactSynonym "Pulmonary atresia with ventricular septum defect" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/214-201704-kojin.pdf
rdfs:label "心室中隔欠損を伴う肺動脈閉鎖症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008343
http://nanbyodata.jp/ontology/nanbyo#1000707 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000006
has_notification_number "215" xsd:string
dcterms:identifier "1000707" xsd:string
hasExactSynonym "Tetralogy of Fallot" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/215-201704-kojin.pdf
rdfs:label "ファロー四徴症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008542
http://nanbyodata.jp/ontology/nanbyo#1000708 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000006
has_notification_number "216" xsd:string
dcterms:identifier "1000708" xsd:string
hasExactSynonym "Double outlet right ventricle" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/216-201704-kojin.pdf
rdfs:label "両大血管右室起始症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016581
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018089
http://nanbyodata.jp/ontology/nanbyo#1000709 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000006
has_notification_number "217" xsd:string
dcterms:identifier "1000709" xsd:string
hasExactSynonym "Ebstein disease" @en
hasExactSynonym "Ebstein malformation" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/217-201704-kojin.pdf
rdfs:label "エプスタイン病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009144
http://nanbyodata.jp/ontology/nanbyo#1000710 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "218" xsd:string
dcterms:identifier "1000710" xsd:string
hasExactSynonym "Alport syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/218-201704-kojin.pdf
rdfs:label "アルポート症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018965
http://nanbyodata.jp/ontology/nanbyo#1000711 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "219" xsd:string
dcterms:identifier "1000711" xsd:string
hasExactSynonym "Galloway-Mowat syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/219-201704-kojin.pdf
rdfs:label "ギャロウェイ・モワト症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009627
http://nanbyodata.jp/ontology/nanbyo#1000712 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "220" xsd:string
dcterms:identifier "1000712" xsd:string
hasExactSynonym "PR3-ANCA positive rapidly progressive glomerulonephritis" @en
hasExactSynonym "crescentic glomerulonephritis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/220-201704-kojin.pdf
rdfs:label "急速進行性糸球体腎炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0001645
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017236
http://nanbyodata.jp/ontology/nanbyo#1000713 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "220" xsd:string
dcterms:identifier "1000713" xsd:string
hasExactSynonym "MPO-ANCA associated crescentic glomerulonephritis" @en
hasExactSynonym "MPO-ANCA positive rapidly progressive glomerulonephritis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/220-201704-kojin.pdf
rdfs:label "急速進行性糸球体腎炎(MPO-ANCA陽性)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000712
http://nanbyodata.jp/ontology/nanbyo#1000714 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "220" xsd:string
dcterms:identifier "1000714" xsd:string
hasExactSynonym "Rapidly progressive glomerulonephritis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/220-201704-kojin.pdf
rdfs:label "急速進行性糸球体腎炎(PR3-ANCA陽性)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000712
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017236
http://nanbyodata.jp/ontology/nanbyo#1000715 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "220" xsd:string
dcterms:identifier "1000715" xsd:string
hasExactSynonym "Anti-GBM rapidly progressive glomerulonephritis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/220-201704-kojin.pdf
rdfs:label "急速進行性糸球体腎炎(抗GBM抗体陽性)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000712
http://nanbyodata.jp/ontology/nanbyo#1000716 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "221" xsd:string
dcterms:identifier "1000716" xsd:string
hasExactSynonym "Anti-glomerular basement membrane disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/221-201704-kojin.pdf
rdfs:label "抗糸球体基底膜腎炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009303
http://nanbyodata.jp/ontology/nanbyo#1000717 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "222" xsd:string
dcterms:identifier "1000717" xsd:string
hasExactSynonym "Primary nephrotic syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/222-201704-kojin.pdf
rdfs:label "一次性ネフローゼ症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000718 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "222" xsd:string
dcterms:identifier "1000718" xsd:string
hasExactSynonym "MCNS" @en
hasExactSynonym "Minimal change nephrotic syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/222-201704-kojin.pdf
rdfs:label "微小変化型ネフローゼ症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000717
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0006835
http://nanbyodata.jp/ontology/nanbyo#1000719 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "222" xsd:string
dcterms:identifier "1000719" xsd:string
hasExactSynonym "Membranous nephropathy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/222-201704-kojin.pdf
rdfs:label "膜性腎症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000717
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005376
http://nanbyodata.jp/ontology/nanbyo#1000720 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "222" xsd:string
dcterms:identifier "1000720" xsd:string
hasExactSynonym "FSGS" @en
hasExactSynonym "Focal segmental glomerulosclerosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/222-201704-kojin.pdf
rdfs:label "巣状分節性糸球体硬化症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000717
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005363
http://nanbyodata.jp/ontology/nanbyo#1000721 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "222" xsd:string
dcterms:identifier "1000721" xsd:string
hasExactSynonym "Crescentic Glomerulonephritis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/222-201704-kojin.pdf
rdfs:label "半月体形成性糸球体腎炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000717
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0001645
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017236
http://nanbyodata.jp/ontology/nanbyo#1000722 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "222" xsd:string
dcterms:identifier "1000722" xsd:string
hasExactSynonym "Endocapillary proliferative glomerulonephritis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/222-201704-kojin.pdf
rdfs:label "管内増殖性糸球体腎炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000717
http://nanbyodata.jp/ontology/nanbyo#1000723 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "223" xsd:string
dcterms:identifier "1000723" xsd:string
hasExactSynonym "Primary membranoproliferative glomerulonephritis" @en
hasExactSynonym "坂口分類(https://www.jstage.jst.go.jp/article/jpnjnephrol1959/26/6/26_6_671/_pdf/-char/ja)" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/223-201704-kojin.pdf
rdfs:label "一次性膜性増殖性糸球体腎炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018904
http://nanbyodata.jp/ontology/nanbyo#1000724 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "223" xsd:string
dcterms:identifier "1000724" xsd:string
hasExactSynonym "MPGN typeⅠ" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/223-201704-kojin.pdf
rdfs:label "一次性膜性増殖性糸球体腎炎Ⅰ型" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000723
http://nanbyodata.jp/ontology/nanbyo#1000725 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "223" xsd:string
dcterms:identifier "1000725" xsd:string
hasExactSynonym "mesangial proliferative GN,slight" @en
hasExactSynonym "post MPGN" @en
hasExactSynonym "メサンギウム細胞増殖性糸球体腎炎 1a型" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/223-201704-kojin.pdf
rdfs:label "メサンギウム細胞軽度増殖性糸球体腎炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000724
http://nanbyodata.jp/ontology/nanbyo#1000726 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "223" xsd:string
dcterms:identifier "1000726" xsd:string
hasExactSynonym "mesangial proliferative GN,moderate" @en
hasExactSynonym "pre MPGN" @en
hasExactSynonym "メサンギウム細胞増殖性糸球体腎炎 1b型" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/223-201704-kojin.pdf
rdfs:label "中等度メサンギウム細胞増殖性糸球体腎炎" @ja
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has_notification_number "223" xsd:string
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hasExactSynonym "MPGN typeⅠ,chronic,focal" @en
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rdfs:label "慢性・巣状型膜性増殖性糸球体腎炎" @ja
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hasExactSynonym "MPGN typeⅠ,acute,focal" @en
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rdfs:label "急性・巣状型膜性増殖性糸球体腎炎" @ja
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hasExactSynonym "MPGN typeⅠ,chronic diffuse,slight" @en
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hasExactSynonym "MPGN typeⅠ,chronic diffuse,non-lobular" @en
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rdfs:label "慢性・びまん型膜性増殖性糸球体腎炎 4b型" @ja
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has_notification_number "223" xsd:string
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hasExactSynonym "MPGN typeⅠ,chronic diffuse,moderate" @en
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rdfs:label "慢性・びまん型膜性増殖性糸球体腎炎 4c型" @ja
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hasExactSynonym "MPGN typeⅠ,acute diffuse,endocapillary" @en
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rdfs:label "急性・びまん型膜性増殖性糸球体腎炎 5a型" @ja
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http://nanbyodata.jp/ontology/nanbyo#1000733 (rdf:type owl:Class )
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hasExactSynonym "MPGN typeⅠ,acute diffuse,moderate" @en
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rdfs:label "急性・びまん型膜性増殖性糸球体腎炎 5b型" @ja
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http://nanbyodata.jp/ontology/nanbyo#1000734 (rdf:type owl:Class )
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has_notification_number "223" xsd:string
dcterms:identifier "1000734" xsd:string
hasExactSynonym "MPGN typeⅠ,acute diffuse,marked" @en
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rdfs:label "急性・びまん型膜性増殖性糸球体腎炎 5c型" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000724
http://nanbyodata.jp/ontology/nanbyo#1000735 (rdf:type owl:Class )
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has_notification_number "223" xsd:string
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hasExactSynonym "MPGN typeⅠ,lobular" @en
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rdfs:label "分葉型膜性増殖性糸球体腎炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000724
http://nanbyodata.jp/ontology/nanbyo#1000736 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "223" xsd:string
dcterms:identifier "1000736" xsd:string
hasExactSynonym "MPGN typeⅠ,end stage" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/223-201704-kojin.pdf
rdfs:label "終末期型膜性増殖性糸球体腎炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000724
http://nanbyodata.jp/ontology/nanbyo#1000737 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "223" xsd:string
dcterms:identifier "1000737" xsd:string
hasExactSynonym "MPGN typeⅡ" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/223-201704-kojin.pdf
rdfs:label "一次性膜性増殖性糸球体腎炎Ⅱ型" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000723
http://nanbyodata.jp/ontology/nanbyo#1000738 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "223" xsd:string
dcterms:identifier "1000738" xsd:string
hasExactSynonym "MPGN typeⅢ" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/223-201704-kojin.pdf
rdfs:label "一次性膜性増殖性糸球体腎炎Ⅲ型" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000723
http://nanbyodata.jp/ontology/nanbyo#1000739 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "224" xsd:string
dcterms:identifier "1000739" xsd:string
hasExactSynonym "Purpura nephritis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/224-201704-kojin.pdf
rdfs:label "紫斑病性腎炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000740 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "225" xsd:string
dcterms:identifier "1000740" xsd:string
hasExactSynonym "Congenital nephrogenic diabetes insipidus" @en
hasExactSynonym "Nephrogenic diabetes insipidus" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/225-201704-kojin.pdf
rdfs:label "先天性腎性尿崩症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016383
http://nanbyodata.jp/ontology/nanbyo#1000741 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000008
has_notification_number "226" xsd:string
dcterms:identifier "1000741" xsd:string
hasExactSynonym "Interstitial cystitis" @en
hasExactSynonym "Interstitial cystitis with Hunners ulcer" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/226-201704-kojin.pdf
rdfs:label "間質性膀胱炎(ハンナ型)" @ja
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http://nanbyodata.jp/ontology/nanbyo#1000742 (rdf:type owl:Class )
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has_notification_number "227" xsd:string
dcterms:identifier "1000742" xsd:string
hasExactSynonym "Hereditary hemorrhagic telangiectasia" @en
hasExactSynonym "Osler disease" @en
hasExactSynonym "遺伝性出血性末梢血管拡張症" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/227-201704-kojin.pdf
rdfs:label "オスラー病" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019180
http://nanbyodata.jp/ontology/nanbyo#1000743 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000011
has_notification_number "228" xsd:string
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hasExactSynonym "Bronchiolitis obliterans" @en
hasExactSynonym "Obliterating bronchiolitis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/228-201704-kojin.pdf
rdfs:label "閉塞性細気管支炎" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015265
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has_notification_number "229" xsd:string
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hasExactSynonym "Congenital pulmonary alveolar proteinosis" @en
hasExactSynonym "Hereditary pulmonary alveolar proteinosis" @en
hasExactSynonym "pulmonary alveolar proteinosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/229-201704-kojin.pdf
rdfs:label "肺胞蛋白症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0001437
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012580
http://nanbyodata.jp/ontology/nanbyo#1000745 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000011
has_notification_number "229" xsd:string
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hasExactSynonym "Autoimmune pulmonary alveolar proteinosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/229-201704-kojin.pdf
rdfs:label "自己免疫性肺胞蛋白症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012579
http://nanbyodata.jp/ontology/nanbyo#1000746 (rdf:type owl:Class )
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has_notification_number "229" xsd:string
dcterms:identifier "1000746" xsd:string
hasExactSynonym "Idiopathic pulmonary alveolar proteinosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/229-201704-kojin.pdf
rdfs:label "特発性肺胞蛋白症" @ja
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has_notification_number "229" xsd:string
dcterms:identifier "1000747" xsd:string
hasExactSynonym "Secondary Pulmonary Alveolar Proteinosis" @en
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rdfs:label "続発性肺胞蛋白症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018483
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has_notification_number "229" xsd:string
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hasExactSynonym "Congenital pulmonary alveolar proteinosis" @en
hasExactSynonym "Hereditary pulmonary alveolar proteinosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/229-201704-kojin.pdf
rdfs:label "先天性肺胞蛋白症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000744
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012580
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has_notification_number "230" xsd:string
dcterms:identifier "1000749" xsd:string
hasExactSynonym "AHS" @en
hasExactSynonym "Alveolar hypoventilation syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/230-201804-kojin.pdf
rdfs:label "肺胞低換気症候群" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008346
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008758
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has_notification_number "230" xsd:string
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hasExactSynonym "OHS" @en
hasExactSynonym "obesity hypoventilation syndrome" @en
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rdfs:label "肥満低換気症候群" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008493
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009763
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010572
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hasExactSynonym "CCHS" @en
hasExactSynonym "Congenital central hypoventilation syndrome" @en
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rdfs:label "先天性中枢性低換気症候群" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008852
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has_notification_number "230" xsd:string
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hasExactSynonym "Idiopathic central hypoventilation syndrome" @en
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rdfs:label "特発性中枢性低換気症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000749
http://nanbyodata.jp/ontology/nanbyo#1000753 (rdf:type owl:Class )
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has_notification_number "231" xsd:string
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hasExactSynonym "Alpha-1-antitrypsin deficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/231-201704-kojin.pdf
rdfs:label "α1−アンチトリプシン欠乏症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0013282
http://nanbyodata.jp/ontology/nanbyo#1000754 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "232" xsd:string
dcterms:identifier "1000754" xsd:string
hasExactSynonym "Carney complex" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/232-201704-kojin.pdf
rdfs:label "カーニー複合" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015285
http://nanbyodata.jp/ontology/nanbyo#1000755 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000010
has_notification_number "233" xsd:string
dcterms:identifier "1000755" xsd:string
hasExactSynonym "Wolfram syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/233-201704-kojin.pdf
rdfs:label "ウォルフラム症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018105
http://nanbyodata.jp/ontology/nanbyo#1000756 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "234" xsd:string
dcterms:identifier "1000756" xsd:string
hasExactSynonym "Peroxisomal disease" @en
rdfs:isDefinedBy file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl
rdfs:label "ペルオキシソーム病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019053
http://nanbyodata.jp/ontology/nanbyo#1000757 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "234" xsd:string
dcterms:identifier "1000757" xsd:string
hasExactSynonym "Peroxisome biogenesis disorders" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/234-01-201704-kojin.pdf
rdfs:label "ペルオキシソーム形成異常症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019234
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019609
http://nanbyodata.jp/ontology/nanbyo#1000758 (rdf:type owl:Class )
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has_notification_number "234" xsd:string
dcterms:identifier "1000758" xsd:string
hasExactSynonym "Zellweger syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/234-01-201704-kojin.pdf
rdfs:label "ツェルベーガー症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000757
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019609
http://nanbyodata.jp/ontology/nanbyo#1000759 (rdf:type owl:Class )
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has_notification_number "234" xsd:string
dcterms:identifier "1000759" xsd:string
hasExactSynonym "Neonatal adrenoleukodystrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/234-01-201704-kojin.pdf
rdfs:label "新生児型副腎白質ジストロフィー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000757
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018598
http://nanbyodata.jp/ontology/nanbyo#1000760 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "234" xsd:string
dcterms:identifier "1000760" xsd:string
hasExactSynonym "Infantile Refsum disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/234-01-201704-kojin.pdf
rdfs:label "乳児レフサム病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000757
http://nanbyodata.jp/ontology/nanbyo#1000761 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "234" xsd:string
dcterms:identifier "1000761" xsd:string
hasExactSynonym "RCDP type 1" @en
hasExactSynonym "Rhizomelic chondrodysplasia punctata type 1" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/234-01-201704-kojin.pdf
rdfs:label "根性点状軟骨異形成症1型" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000757
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008972
http://nanbyodata.jp/ontology/nanbyo#1000762 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "234" xsd:string
dcterms:identifier "1000762" xsd:string
hasExactSynonym "Peroxisomal beta-oxidation enzyme deficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/234-02-201704-kojin.pdf
rdfs:label "ペルオキシソームβ酸化系酵素欠損症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000756
http://nanbyodata.jp/ontology/nanbyo#1000763 (rdf:type owl:Class )
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has_notification_number "234" xsd:string
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hasExactSynonym "D-bifunctional protein deficiency" @en
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rdfs:label "D-二頭酵素欠損症" @ja
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hasExactSynonym "SCPx欠損症" @ja
hasExactSynonym "Sterol carrier protein 2 deficiency" @en
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rdfs:label "ステロールキャリアプロテインX欠損症" @ja
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hasExactSynonym "AMACR欠損症" @ja
hasExactSynonym "Alpha-methylacyl-CoA racemase deficiency" @en
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hasExactSynonym "Refsum disease" @en
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hasExactSynonym "Plasmalogen biosynthesis enzyme deficiency" @en
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rdfs:label "プラスマローゲン合成系酵素欠損症" @ja
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hasExactSynonym "Rhizomelic chondrodysplasia punctata type2" @en
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rdfs:label "根性点状軟骨異形成症2型" @ja
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hasExactSynonym "Acatalasia" @en
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rdfs:label "アカタラセミア" @ja
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rdfs:label "副甲状腺機能低下症" @ja
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rdfs:label "尿素サイクル異常症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0004739
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019217
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hasExactSynonym "Carbamoyl phosphate synthetase I deficiency" @en
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rdfs:label "CPSI欠損症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009376
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hasExactSynonym "Ornithine transcarbamylase deficiency" @en
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rdfs:label "OTC欠損症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010703
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hasExactSynonym "Citrullinemia type I" @en
hasExactSynonym "classic citrullinemia" @en
hasExactSynonym "Ⅰ型シトルリン血症" @ja
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rdfs:label "古典型シトルリン血症" @ja
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hasExactSynonym "Argininosuccinic aciduria" @en
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rdfs:label "アルギニノコハク酸尿症" @ja
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hasExactSynonym "Congenital folate malabsorption" @en
hasExactSynonym "Hereditary Folate Malabsorption" @en
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rdfs:label "先天性葉酸吸収不全" @ja
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rdfs:isDefinedBy file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019142
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0037939
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hasExactSynonym "Acute intermittent porphyria" @en
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rdfs:label "赤芽球性プロトポルフィリン症" @ja
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hasExactSynonym "Porphyria cutanea tarda" @en
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010420
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hasExactSynonym "Hepatoerythropoietic porphyria" @en
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hasExactSynonym "Multiple carboxylase deficiency" @en
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rdfs:label "複合カルボキシラーゼ欠損症" @ja
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rdfs:label "ホロカルボキシラーゼ合成酵素欠損症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009666
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hasExactSynonym "Biotinidase deficiency" @en
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hasExactSynonym "Glycogen storage disease type VII" @en
hasExactSynonym "Muscle glycogen storage disease" @en
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hasExactSynonym "Skeletal muscle glycogenosis" @en
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rdfs:label "筋型糖原病XIV型" @ja
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hasExactSynonym "Hepatic glycogenosis" @en
rdfs:isDefinedBy file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl
rdfs:label "肝型糖原病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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hasExactSynonym "Glycogen storage disease type I-III-VI-IX" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/257-01-201704-kojin.pdf
rdfs:label "糖原病Ⅰ-Ⅲ-Ⅵ-Ⅸ型" @ja
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hasExactSynonym "Glycogen storage disease due to glucose-6-phosphatase deficiency" @en
hasExactSynonym "Glycogen storage disease type Ia" @en
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rdfs:label "糖原病Ⅰa型" @ja
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hasExactSynonym "G6P translocase deficiency" @en
hasExactSynonym "G6PT deficiency" @en
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rdfs:label "糖原病Ⅰb型" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009288
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0023258
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hasExactSynonym "GSD type IIIa" @en
hasExactSynonym "Glycogen storage disease due to glycogen debranching enzyme deficiency" @en
hasExactSynonym "グリコーゲン脱分枝酵素欠損症" @ja
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rdfs:label "糖原病Ⅲa型" @ja
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hasExactSynonym "GSD type IIIb" @en
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rdfs:label "糖原病Ⅲb型" @ja
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hasExactSynonym "GSD type IIIc" @en
hasExactSynonym "amylo 1,6- glucosidase deficiency" @en
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rdfs:label "糖原病Ⅲc型" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009291
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hasExactSynonym "4-alpha-glucanotransferase deficiency" @en
hasExactSynonym "GSD type IIId" @en
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rdfs:label "糖原病Ⅲd型" @ja
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hasExactSynonym "Glycogen storage disease type VI" @en
hasExactSynonym "Hepatic phosphorylase deficiency" @en
hasExactSynonym "Hers disease" @en
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rdfs:label "糖原病Ⅵ型" @ja
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hasExactSynonym "Glycogen storage disease type Ⅸa" @en
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rdfs:label "糖原病Ⅸa型" @ja
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hasExactSynonym "Glycogen storage disease type Ⅸb" @en
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rdfs:label "糖原病Ⅸb型" @ja
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rdfs:label "糖原病Ⅸc型" @ja
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hasExactSynonym "Glycogen storage disease type IV" @en
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rdfs:label "Ⅳ型糖原病" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009292
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has_notification_number "258" xsd:string
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hasExactSynonym "GALT deficiency" @en
hasExactSynonym "Galactose-1-phosphate uridyltransferase deficiency" @en
hasExactSynonym "Galactose-1-phosphate uridylyltransferase deficiency" @en
hasExactSynonym "Galactosemia type 1" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/258-201704-kojin.pdf
rdfs:label "ガラクトース-1-リン酸ウリジルトランスフェラーゼ欠損症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009258
http://nanbyodata.jp/ontology/nanbyo#1000850 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "259" xsd:string
dcterms:identifier "1000850" xsd:string
hasExactSynonym "LCAT deficiency" @en
hasExactSynonym "Lecithin‐cholesterol acyltransferase deficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/259-201704-kojin.pdf
rdfs:label "レシチンコレステロールアシルトランスフェラーゼ欠損症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009515
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018999
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "260" xsd:string
dcterms:identifier "1000851" xsd:string
hasExactSynonym "Sitosterolemia" @en
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rdfs:label "シトステロール血症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008863
http://nanbyodata.jp/ontology/nanbyo#1000852 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "261" xsd:string
dcterms:identifier "1000852" xsd:string
hasExactSynonym "Tangier disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/261-201704-kojin.pdf
rdfs:label "タンジール病" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008783
http://nanbyodata.jp/ontology/nanbyo#1000853 (rdf:type owl:Class )
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has_notification_number "262" xsd:string
dcterms:identifier "1000853" xsd:string
hasExactSynonym "Primary Hyperchylomicronemia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/262-201704-kojin.pdf
rdfs:label "原発性高カイロミクロン血症" @ja
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http://nanbyodata.jp/ontology/nanbyo#1000854 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "263" xsd:string
dcterms:identifier "1000854" xsd:string
hasExactSynonym "Cerebrotendinous xanthomatosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/263-201704-kojin.pdf
rdfs:label "脳腱黄色腫症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008948
http://nanbyodata.jp/ontology/nanbyo#1000855 (rdf:type owl:Class )
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has_notification_number "264" xsd:string
dcterms:identifier "1000855" xsd:string
hasExactSynonym "Abetalipoproteinemia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/264-201704-kojin.pdf
rdfs:label "無βリポタンパク血症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008692
http://nanbyodata.jp/ontology/nanbyo#1000856 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "265" xsd:string
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hasExactSynonym "Lipodystrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/265-201704-kojin.pdf
rdfs:label "脂肪萎縮症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0006573
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has_notification_number "265" xsd:string
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hasExactSynonym "Generalized congenital lipodystrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/265-201704-kojin.pdf
rdfs:label "先天性全身性脂肪萎縮症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000856
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018883
http://nanbyodata.jp/ontology/nanbyo#1000858 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000003
has_notification_number "265" xsd:string
dcterms:identifier "1000858" xsd:string
hasExactSynonym "Acquired generalized lipodystrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/265-201704-kojin.pdf
rdfs:label "後天性全身性脂肪萎縮症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019193
http://nanbyodata.jp/ontology/nanbyo#1000859 (rdf:type owl:Class )
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has_notification_number "265" xsd:string
dcterms:identifier "1000859" xsd:string
hasExactSynonym "Familial partial lipodystrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/265-201704-kojin.pdf
rdfs:label "家族性部分性脂肪萎縮症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020088
http://nanbyodata.jp/ontology/nanbyo#1000860 (rdf:type owl:Class )
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has_notification_number "265" xsd:string
dcterms:identifier "1000860" xsd:string
hasExactSynonym "Partial acquired lipodystrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/265-201704-kojin.pdf
rdfs:label "後天性部分性脂肪萎縮症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012104
http://nanbyodata.jp/ontology/nanbyo#1000861 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "266" xsd:string
dcterms:identifier "1000861" xsd:string
hasExactSynonym "Familial Mediterranean fever" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/266-201704-kojin.pdf
rdfs:label "家族性地中海熱" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009572
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018088
http://nanbyodata.jp/ontology/nanbyo#1000862 (rdf:type owl:Class )
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dcterms:identifier "1000862" xsd:string
hasExactSynonym "" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/266-201704-kojin.pdf
rdfs:label "家族性地中海熱典型例" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
http://nanbyodata.jp/ontology/nanbyo#1000863 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "266" xsd:string
dcterms:identifier "1000863" xsd:string
hasExactSynonym "Atypical familial Mediterranean fever" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/266-201704-kojin.pdf
rdfs:label "家族性地中海熱非典型例" @ja
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http://nanbyodata.jp/ontology/nanbyo#1000864 (rdf:type owl:Class )
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has_notification_number "267" xsd:string
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hasExactSynonym "Hyper-IgD syndrome" @en
hasExactSynonym "Hyperimmunoglobulinemia D and periodic fever syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/267-201704-kojin.pdf
rdfs:label "高IgD症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009849
http://nanbyodata.jp/ontology/nanbyo#1000865 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "268" xsd:string
dcterms:identifier "1000865" xsd:string
hasExactSynonym "Autoinflammation, lipodystrophy, and dermatosis syndrome" @en
hasExactSynonym "CANDLE syndrome" @en
hasExactSynonym "JMP syndrome" @en
hasExactSynonym "Nakajo-Nishimura syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/268-201704-kojin.pdf
rdfs:label "中條・西村症候群" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009726
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016849
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017959
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017960
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0054698
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "269" xsd:string
dcterms:identifier "1000866" xsd:string
hasExactSynonym "PAPA syndrome" @en
hasExactSynonym "Pyogenic arthritis, pyoderma gangrenosum and acne syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/269-201704-kojin.pdf
rdfs:label "化膿性無菌性関節炎・壊疽性膿皮症・アクネ症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011462
http://nanbyodata.jp/ontology/nanbyo#1000867 (rdf:type owl:Class )
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has_notification_number "270" xsd:string
dcterms:identifier "1000867" xsd:string
hasExactSynonym "Chronic recurrent multifocal osteomyelitis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/270-201704-kojin.pdf
rdfs:label "慢性再発性多発性骨髄炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009813
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has_notification_number "271" xsd:string
dcterms:identifier "1000868" xsd:string
hasExactSynonym "Ankylosing spondylitis" @en
hasExactSynonym "Spondylarthritis ankylopoietica" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/271-201704-kojin.pdf
rdfs:label "強直性脊椎炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005306
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000009
has_notification_number "272" xsd:string
dcterms:identifier "1000869" xsd:string
hasExactSynonym "Fibrodysplasia ossificans progressiva" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/272-201704-kojin.pdf
rdfs:label "進行性骨化性線維異形成症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0003964
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007606
http://nanbyodata.jp/ontology/nanbyo#1000870 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000009
has_notification_number "273" xsd:string
dcterms:identifier "1000870" xsd:string
hasExactSynonym "Congenital scoliosis with rib anomaly" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/273-201704-kojin.pdf
rdfs:label "肋骨異常を伴う先天性側弯症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000871 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000009
has_notification_number "274" xsd:string
dcterms:identifier "1000871" xsd:string
hasExactSynonym "Osteogenesis Imperfecta" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/274-201704-kojin.pdf
rdfs:label "骨形成不全症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000872 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000009
has_notification_number "275" xsd:string
dcterms:identifier "1000872" xsd:string
hasExactSynonym "Thanatophoric dysplasia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/275-201704-kojin.pdf
rdfs:label "タナトフォリック骨異形成症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008546
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017042
http://nanbyodata.jp/ontology/nanbyo#1000873 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000009
has_notification_number "275" xsd:string
dcterms:identifier "1000873" xsd:string
hasExactSynonym "Thanatophoric dysplasia type 1" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/275-201704-kojin.pdf
rdfs:label "タナトフォリック骨異形成症1型" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000872
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008546
http://nanbyodata.jp/ontology/nanbyo#1000874 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000009
has_notification_number "275" xsd:string
dcterms:identifier "1000874" xsd:string
hasExactSynonym "Thanatophoric dysplasia type 2" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/275-201704-kojin.pdf
rdfs:label "タナトフォリック骨異形成症2型" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000872
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008547
http://nanbyodata.jp/ontology/nanbyo#1000875 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000009
has_notification_number "276" xsd:string
dcterms:identifier "1000875" xsd:string
hasExactSynonym "Achondroplasia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/276-201704-kojin.pdf
rdfs:label "軟骨無形成症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007037
http://nanbyodata.jp/ontology/nanbyo#1000876 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000011
has_notification_number "277" xsd:string
dcterms:identifier "1000876" xsd:string
hasExactSynonym "Lymphangiomatosis/Gorham disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/277-201704-kojin.pdf
rdfs:label "リンパ管腫症/ゴーハム病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000877 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000011
has_notification_number "277" xsd:string
dcterms:identifier "1000877" xsd:string
hasExactSynonym "Generalized lymphatic anomaly" @en
hasExactSynonym "Lymphangiomatosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/277-201704-kojin.pdf
rdfs:label "リンパ管腫症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000876
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015408
http://nanbyodata.jp/ontology/nanbyo#1000878 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000011
has_notification_number "277" xsd:string
dcterms:identifier "1000878" xsd:string
hasExactSynonym "Gorham disease" @en
hasExactSynonym "Gorham-Stout disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/277-201704-kojin.pdf
rdfs:label "ゴーハム病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000876
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0003157
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007414
http://nanbyodata.jp/ontology/nanbyo#1000879 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000011
has_notification_number "278" xsd:string
dcterms:identifier "1000879" xsd:string
hasExactSynonym "Huge Lymphatic malformation" @en
hasExactSynonym "Huge Lymphatic malformation with cervicofacial lesion" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/278-201704-kojin.pdf
rdfs:label "巨大リンパ管奇形(頚部顔面病変)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000880 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000006
has_notification_number "279" xsd:string
dcterms:identifier "1000880" xsd:string
hasExactSynonym "Huge venous malformation" @en
hasExactSynonym "Huge venous malformation with cervical, oral and pharyngeal diffuse lesion" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/279-201704-kojin.pdf
rdfs:label "巨大静脈奇形(頚部口腔咽頭びまん性病変)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000881 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000006
has_notification_number "280" xsd:string
dcterms:identifier "1000881" xsd:string
hasExactSynonym "Huge arteriovenous malformation" @en
hasExactSynonym "Huge arteriovenous malformation with cervicofacial or limb lesion" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/280-201704-kojin.pdf
rdfs:label "巨大動静脈奇形(頚部顔面又は四肢病変)" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000882 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000006
has_notification_number "281" xsd:string
dcterms:identifier "1000882" xsd:string
hasExactSynonym "Klippel-Trenaunay-Weber syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/281-201704-kojin.pdf
rdfs:label "クリッペル・トレノネー・ウェーバー症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007864
http://nanbyodata.jp/ontology/nanbyo#1000883 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "282" xsd:string
dcterms:identifier "1000883" xsd:string
hasExactSynonym "Congenital dyserythropoietic anemia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/282-201704-kojin.pdf
rdfs:label "先天性赤血球形成異常性貧血" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019403
http://nanbyodata.jp/ontology/nanbyo#1000884 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "282" xsd:string
dcterms:identifier "1000884" xsd:string
hasExactSynonym "Congenital dyserythropoietic anemia type I" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/282-201704-kojin.pdf
rdfs:label "先天性赤血球形成異常性貧血 Type I" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000883
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020337
http://nanbyodata.jp/ontology/nanbyo#1000885 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "282" xsd:string
dcterms:identifier "1000885" xsd:string
hasExactSynonym "Congenital dyserythropoietic anemia type II" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/282-201704-kojin.pdf
rdfs:label "先天性赤血球形成異常性貧血 Type II" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000883
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009134
http://nanbyodata.jp/ontology/nanbyo#1000886 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "282" xsd:string
dcterms:identifier "1000886" xsd:string
hasExactSynonym "Congenital dyserythropoietic anemia type III" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/282-201704-kojin.pdf
rdfs:label "先天性赤血球形成異常性貧血 Type III" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000883
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007109
http://nanbyodata.jp/ontology/nanbyo#1000887 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "283" xsd:string
dcterms:identifier "1000887" xsd:string
hasExactSynonym "Acquired pure red cell aplasia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/283-201704-kojin.pdf
rdfs:label "後天性赤芽球癆" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020338
http://nanbyodata.jp/ontology/nanbyo#1000888 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "284" xsd:string
dcterms:identifier "1000888" xsd:string
hasExactSynonym "Diamond-Blackfan anemia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/284-201704-kojin.pdf
rdfs:label "ダイアモンド・ブラックファン貧血" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015253
http://nanbyodata.jp/ontology/nanbyo#1000889 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "285" xsd:string
dcterms:identifier "1000889" xsd:string
hasExactSynonym "Fanconi anemia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/285-201704-kojin.pdf
rdfs:label "ファンコニ貧血" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009215
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019391
http://nanbyodata.jp/ontology/nanbyo#1000890 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000007
has_notification_number "286" xsd:string
dcterms:identifier "1000890" xsd:string
hasExactSynonym "Hereditary sideroblastic anemia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/286-201704-kojin.pdf
rdfs:label "遺伝性鉄芽球性貧血" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000891 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "287" xsd:string
dcterms:identifier "1000891" xsd:string
hasExactSynonym "Epstein syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/287-201704-kojin.pdf
rdfs:label "エプスタイン症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007929
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015912
http://nanbyodata.jp/ontology/nanbyo#1000892 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "287" xsd:string
dcterms:identifier "1000892" xsd:string
hasExactSynonym "severe Epstein syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/287-201704-kojin.pdf
rdfs:label "最重症型エプスタイン症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000891
http://nanbyodata.jp/ontology/nanbyo#1000893 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "287" xsd:string
dcterms:identifier "1000893" xsd:string
hasExactSynonym "" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/287-201704-kojin.pdf
rdfs:label "中等症エプスタイン症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000891
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
http://nanbyodata.jp/ontology/nanbyo#1000894 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "288" xsd:string
dcterms:identifier "1000894" xsd:string
hasExactSynonym "Autoimmune Hemorrhaphilia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/288-201804-kojin.pdf
rdfs:label "自己免疫性出血病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000895 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "288" xsd:string
dcterms:identifier "1000895" xsd:string
hasExactSynonym "AH13" @en
hasExactSynonym "Autoimmune Hemorrhaphilia XIII/13" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/288-201804-kojin.pdf
rdfs:label "自己免疫性後天性凝固第 XIII/13 因子欠乏症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000894
http://nanbyodata.jp/ontology/nanbyo#1000896 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "288" xsd:string
dcterms:identifier "1000896" xsd:string
hasExactSynonym "Acquired hemophilia A" @en
hasExactSynonym "後天性血友病A" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/288-201804-kojin.pdf
rdfs:label "自己免疫性後天性凝固第 VIII/8 因子欠乏症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000894
http://nanbyodata.jp/ontology/nanbyo#1000897 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "288" xsd:string
dcterms:identifier "1000897" xsd:string
hasExactSynonym "AVWD" @en
hasExactSynonym "AVWD" @ja
hasExactSynonym "Acquired von Willebrand disease" @en
hasExactSynonym "自己免疫性後天性フォンウィルブランド病" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/288-201804-kojin.pdf
rdfs:label "自己免疫性後天性フォンウィルブランド因子欠乏症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000894
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020460
http://nanbyodata.jp/ontology/nanbyo#1000898 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "288" xsd:string
dcterms:identifier "1000898" xsd:string
hasExactSynonym "AF5D" @en
hasExactSynonym "Acquired Factor V Inhibitor" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/288-201804-kojin.pdf
rdfs:label "自己免疫性後天性凝固第 V/5 因子欠乏症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000894
http://nanbyodata.jp/ontology/nanbyo#1000899 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000014
has_notification_number "289" xsd:string
dcterms:identifier "1000899" xsd:string
hasExactSynonym "Cronkhite-Canada syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/289-201704-kojin.pdf
rdfs:label "クロンカイト・カナダ症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008283
http://nanbyodata.jp/ontology/nanbyo#1000900 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000014
has_notification_number "290" xsd:string
dcterms:identifier "1000900" xsd:string
hasExactSynonym "Chronic nonspecific multiple ulcers of the small intestine" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/290-201704-kojin.pdf
rdfs:label "非特異性多発性小腸潰瘍症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000901 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000014
has_notification_number "291" xsd:string
dcterms:identifier "1000901" xsd:string
hasExactSynonym "Hirschsprung disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/291-201704-kojin.pdf
rdfs:label "ヒルシュスプルング病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007723
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018309
http://nanbyodata.jp/ontology/nanbyo#1000902 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000014
has_notification_number "291" xsd:string
dcterms:identifier "1000902" xsd:string
hasExactSynonym "Short-Segment Hirschsprung's Disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/291-201704-kojin.pdf
rdfs:label "直腸下部型ヒルシュスプルング病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000901
http://nanbyodata.jp/ontology/nanbyo#1000903 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000014
has_notification_number "291" xsd:string
dcterms:identifier "1000903" xsd:string
hasExactSynonym "rectosigmoid Hirschsprung's disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/291-201704-kojin.pdf
rdfs:label "S状結腸型ヒルシュスプルング病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000901
http://nanbyodata.jp/ontology/nanbyo#1000904 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000014
has_notification_number "291" xsd:string
dcterms:identifier "1000904" xsd:string
hasExactSynonym "Long-segment Hirschsprung's disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/291-201704-kojin.pdf
rdfs:label "左右結腸型ヒルシュスプルング病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000901
http://nanbyodata.jp/ontology/nanbyo#1000905 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000014
has_notification_number "291" xsd:string
dcterms:identifier "1000905" xsd:string
hasExactSynonym "Entire colon Hirschsprung disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/291-201704-kojin.pdf
rdfs:label "全結腸型ヒルシュスプルング病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000901
http://nanbyodata.jp/ontology/nanbyo#1000906 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000014
has_notification_number "291" xsd:string
dcterms:identifier "1000906" xsd:string
hasExactSynonym "Extensive aganglionosis Hirschsprung disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/291-201704-kojin.pdf
rdfs:label "小腸型ヒルシュスプルング病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000901
http://nanbyodata.jp/ontology/nanbyo#1000907 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000014
has_notification_number "292" xsd:string
dcterms:identifier "1000907" xsd:string
hasExactSynonym "Cloacal exstrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/292-201704-kojin.pdf
rdfs:label "総排泄腔外反症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009774
http://nanbyodata.jp/ontology/nanbyo#1000908 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000014
has_notification_number "293" xsd:string
dcterms:identifier "1000908" xsd:string
hasExactSynonym "Persistent cloaca" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/293-201704-kojin.pdf
rdfs:label "総排泄腔遺残" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000909 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000011
has_notification_number "294" xsd:string
dcterms:identifier "1000909" xsd:string
hasExactSynonym "Congenital diaphragmatic hernia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/294-201704-kojin.pdf
rdfs:label "先天性横隔膜ヘルニア" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005711
http://nanbyodata.jp/ontology/nanbyo#1000910 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000014
has_notification_number "295" xsd:string
dcterms:identifier "1000910" xsd:string
hasExactSynonym "Infant giant liver hemangioma" @en
hasExactSynonym "Infant huge hepatic hemangioma" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/295-201704-kojin.pdf
rdfs:label "乳幼児肝巨大血管腫" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000911 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000014
has_notification_number "296" xsd:string
dcterms:identifier "1000911" xsd:string
hasExactSynonym "Biliary atresia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/296-201704-kojin.pdf
rdfs:label "胆道閉鎖症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008867
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0028737
http://nanbyodata.jp/ontology/nanbyo#1000912 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000014
has_notification_number "296" xsd:string
dcterms:identifier "1000912" xsd:string
hasExactSynonym "type II biliary atresia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/296-201704-kojin.pdf
rdfs:label "Ⅰ型胆道閉鎖症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000911
http://nanbyodata.jp/ontology/nanbyo#1000913 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000014
has_notification_number "296" xsd:string
dcterms:identifier "1000913" xsd:string
hasExactSynonym "type I cystic biliary atresia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/296-201704-kojin.pdf
rdfs:label "Ⅰcyst型胆道閉鎖症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000911
http://nanbyodata.jp/ontology/nanbyo#1000914 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000014
has_notification_number "296" xsd:string
dcterms:identifier "1000914" xsd:string
hasExactSynonym "type II biliary atresia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/296-201704-kojin.pdf
rdfs:label "Ⅱ型胆道閉鎖症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000911
http://nanbyodata.jp/ontology/nanbyo#1000915 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000014
has_notification_number "296" xsd:string
dcterms:identifier "1000915" xsd:string
hasExactSynonym "type III biliary atresia" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/296-201704-kojin.pdf
rdfs:label "Ⅲ型胆道閉鎖症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000911
http://nanbyodata.jp/ontology/nanbyo#1000916 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "297" xsd:string
dcterms:identifier "1000916" xsd:string
hasExactSynonym "Alagille syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/297-201704-kojin.pdf
rdfs:label "アラジール症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007318
http://nanbyodata.jp/ontology/nanbyo#1000917 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "297" xsd:string
dcterms:identifier "1000917" xsd:string
hasExactSynonym "" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/297-201704-kojin.pdf
rdfs:label "アラジール症候群典型例" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000916
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
http://nanbyodata.jp/ontology/nanbyo#1000918 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000015
has_notification_number "297" xsd:string
dcterms:identifier "1000918" xsd:string
hasExactSynonym "Atypical Alagille Syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/297-201704-kojin.pdf
rdfs:label "アラジール症候群非典型例" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000916
http://nanbyodata.jp/ontology/nanbyo#1000919 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000014
has_notification_number "298" xsd:string
dcterms:identifier "1000919" xsd:string
hasExactSynonym "Hereditary pancreatitis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/298-201704-kojin.pdf
rdfs:label "遺伝性膵炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008185
http://nanbyodata.jp/ontology/nanbyo#1000920 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000014
has_notification_number "299" xsd:string
dcterms:identifier "1000920" xsd:string
hasExactSynonym "Cystic fibrosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/299-201704-kojin.pdf
rdfs:label "嚢胞性線維症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009061
http://nanbyodata.jp/ontology/nanbyo#1000921 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "300" xsd:string
dcterms:identifier "1000921" xsd:string
hasExactSynonym "IgG4-related disease" @en
rdfs:isDefinedBy file:///Users/Ryota/_projects/aidrd/disease-mapper/results/nando.ttl
rdfs:label "IgG4関連疾患" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017287
http://nanbyodata.jp/ontology/nanbyo#1000922 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "300" xsd:string
dcterms:identifier "1000922" xsd:string
hasExactSynonym "IgG4-related disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/300-01-201704-kojin.pdf
rdfs:label "IgG4関連疾患包括" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000921
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017287
http://nanbyodata.jp/ontology/nanbyo#1000923 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "300" xsd:string
dcterms:identifier "1000923" xsd:string
hasExactSynonym "Autoimmune pancreatitis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/300-02-201704-kojin.pdf
rdfs:label "自己免疫性膵炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000921
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015175
http://nanbyodata.jp/ontology/nanbyo#1000924 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "300" xsd:string
dcterms:identifier "1000924" xsd:string
hasExactSynonym "diffuse-type autoimmune pancreatitis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/300-02-201704-kojin.pdf
rdfs:label "びまん型自己免疫性膵炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000923
http://nanbyodata.jp/ontology/nanbyo#1000925 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "300" xsd:string
dcterms:identifier "1000925" xsd:string
hasExactSynonym "focal-type autoimmune pancreatitis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/300-02-201704-kojin.pdf
rdfs:label "限局型自己免疫性膵炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000923
http://nanbyodata.jp/ontology/nanbyo#1000926 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "300" xsd:string
dcterms:identifier "1000926" xsd:string
hasExactSynonym "IgG4-related sclerosing cholangitis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/300-03-201704-kojin.pdf
rdfs:label "IgG4関連硬化性胆管炎" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000921
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018645
http://nanbyodata.jp/ontology/nanbyo#1000927 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "300" xsd:string
dcterms:identifier "1000927" xsd:string
hasExactSynonym "IgG4 related dacryoadenitis and sialadenitis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/300-04-201704-kojin.pdf
rdfs:label "IgG4関連涙腺・眼窩および唾液腺病変" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000921
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019191
http://nanbyodata.jp/ontology/nanbyo#1000928 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000005
has_notification_number "300" xsd:string
dcterms:identifier "1000928" xsd:string
hasExactSynonym "IgG4-related kidney disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/300-05-201704-kojin.pdf
rdfs:label "IgG4関連腎臓病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000921
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018671
http://nanbyodata.jp/ontology/nanbyo#1000929 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000012
has_notification_number "301" xsd:string
dcterms:identifier "1000929" xsd:string
hasExactSynonym "Macular dystrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/301-201704-kojin.pdf
rdfs:label "黄斑ジストロフィー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000930 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000012
has_notification_number "301" xsd:string
dcterms:identifier "1000930" xsd:string
hasExactSynonym "Best vitelliform macular dystrophy" @en
hasExactSynonym "Vitelliform macular dystrophy" @en
hasExactSynonym "ベスト病" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/301-201704-kojin.pdf
rdfs:label "卵黄様黄斑ジストロフィー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000929
http://nanbyodata.jp/ontology/nanbyo#1000931 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000012
has_notification_number "301" xsd:string
dcterms:identifier "1000931" xsd:string
hasExactSynonym "Stargardt disease" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/301-201704-kojin.pdf
rdfs:label "Stargardt病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000929
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019353
http://nanbyodata.jp/ontology/nanbyo#1000932 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000012
has_notification_number "301" xsd:string
dcterms:identifier "1000932" xsd:string
hasExactSynonym "Occult macular dystrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/301-201704-kojin.pdf
rdfs:label "オカルト黄斑ジストロフィー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000929
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0013316
http://nanbyodata.jp/ontology/nanbyo#1000933 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000012
has_notification_number "301" xsd:string
dcterms:identifier "1000933" xsd:string
hasExactSynonym "Cone-rod dystrophy and cone dystrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/301-201704-kojin.pdf
rdfs:label "錐体ジストロフィー、および錐体杆体ジストロフィー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000929
http://nanbyodata.jp/ontology/nanbyo#1000934 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000012
has_notification_number "301" xsd:string
dcterms:identifier "1000934" xsd:string
hasExactSynonym "COD" @en
hasExactSynonym "Cone dystrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/301-201704-kojin.pdf
rdfs:label "錐体ジストロフィー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000933
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000455
http://nanbyodata.jp/ontology/nanbyo#1000935 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000012
has_notification_number "301" xsd:string
dcterms:identifier "1000935" xsd:string
hasExactSynonym "CORD" @en
hasExactSynonym "Cone-rod dystrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/301-201704-kojin.pdf
rdfs:label "錐体杆体ジストロフィー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000933
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007362
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015993
http://nanbyodata.jp/ontology/nanbyo#1000936 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000012
has_notification_number "301" xsd:string
dcterms:identifier "1000936" xsd:string
hasExactSynonym "X-linked juvenile retinoschisis" @en
hasExactSynonym "X染色体若年網膜分離症" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/301-201704-kojin.pdf
rdfs:label "X連鎖性若年網膜分離症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000929
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010725
http://nanbyodata.jp/ontology/nanbyo#1000937 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000012
has_notification_number "301" xsd:string
dcterms:identifier "1000937" xsd:string
hasExactSynonym "Central areolar choroidal dystrophy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/301-201704-kojin.pdf
rdfs:label "中心性輪紋状脈絡膜ジストロフィー" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000929
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008982
http://nanbyodata.jp/ontology/nanbyo#1000938 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000012
has_notification_number "302" xsd:string
dcterms:identifier "1000938" xsd:string
hasExactSynonym "Leber hereditary optic neuropathy" @en
hasExactSynonym "レーベル病" @ja
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/302-201704-kojin.pdf
rdfs:label "レーベル遺伝性視神経症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010788
http://nanbyodata.jp/ontology/nanbyo#1000939 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000012
has_notification_number "303" xsd:string
dcterms:identifier "1000939" xsd:string
hasExactSynonym "Usher syndrome" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/303-201704-kojin.pdf
rdfs:label "アッシャー症候群" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019501
http://nanbyodata.jp/ontology/nanbyo#1000940 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000012
has_notification_number "303" xsd:string
dcterms:identifier "1000940" xsd:string
hasExactSynonym "Usher Syndrome Type I" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/303-201704-kojin.pdf
rdfs:label "アッシャー症候群1型" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000939
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010168
http://nanbyodata.jp/ontology/nanbyo#1000941 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000012
has_notification_number "303" xsd:string
dcterms:identifier "1000941" xsd:string
hasExactSynonym "Usher Syndrome Type II" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/303-201704-kojin.pdf
rdfs:label "アッシャー症候群2型" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000939
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016484
http://nanbyodata.jp/ontology/nanbyo#1000942 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000012
has_notification_number "303" xsd:string
dcterms:identifier "1000942" xsd:string
hasExactSynonym "Usher Syndrome Type III" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/303-201704-kojin.pdf
rdfs:label "アッシャー症候群3型" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000939
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010170
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016485
http://nanbyodata.jp/ontology/nanbyo#1000943 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000016
has_notification_number "304" xsd:string
dcterms:identifier "1000943" xsd:string
hasExactSynonym "Juvenile-onset bilateral sensorineural hearing loss" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/304-201704-kojin.pdf
rdfs:label "若年発症型両側性感音難聴" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000944 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000016
has_notification_number "305" xsd:string
dcterms:identifier "1000944" xsd:string
hasExactSynonym "Delayed endolymphatic hydrops" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/305-201704-kojin.pdf
rdfs:label "遅発性内リンパ水腫" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#1000945 (rdf:type owl:Class )
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hasExactSynonym "Eosinophilic sinusitis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/306-201704-kojin.pdf
rdfs:label "好酸球性副鼻腔炎" @ja
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hasExactSynonym "Canavan disease" @en
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rdfs:label "カナバン病" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010079
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hasExactSynonym "Leukoencephalopathy" @en
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rdfs:label "進行性白質脳症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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has_notification_number "308" xsd:string
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hasExactSynonym "Megalencephalic leukoencephalopathy with subcortical cysts" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/308-01-201704-kojin.pdf
rdfs:label "皮質下嚢胞をもつ大頭型白質脳症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011391
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hasExactSynonym "Leukoencephalopathy with vanishing white matter" @en
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rdfs:label "白質消失病" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#1000947
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011380
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has_notification_number "308" xsd:string
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hasExactSynonym "Leukoencephalopathy, progressive, with ovarian failure" @en
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rdfs:label "卵巣機能障害を伴う進行性白質脳症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0014387
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hasExactSynonym "PME" @en
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rdfs:label "進行性ミオクローヌスてんかん" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020074
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hasExactSynonym "Unverricht-Lundborg disease" @en
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rdfs:label "ウンフェルリヒト・ルンドボルグ病" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009698
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hasExactSynonym "Lafora disease" @en
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hasExactSynonym "BAFME" @en
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rdfs:label "良性成人型家族性ミオクローヌスてんかん" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019448
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hasExactSynonym "Malformative syndrome" @en
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rdfs:label "先天異常症候群" @ja
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hasExactSynonym "Partial trisomy 1q" @en
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016952
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hasExactSynonym "9q34 deletion syndrome" @en
hasExactSynonym "Kleefstra syndrome" @en
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has_notification_number "310" xsd:string
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hasExactSynonym "Cornelia de lange syndrome" @en
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016033
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has_notification_number "310" xsd:string
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hasExactSynonym "Smith-lemli-opitz syndrome" @en
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rdfs:label "スミス・レムリ・オピッツ症候群" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010035
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#0000006
has_notification_number "311" xsd:string
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hasExactSynonym "Congenital tricuspid atresia" @en
hasExactSynonym "Tricuspid atresia" @en
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rdfs:label "先天性三尖弁狭窄症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011514
http://nanbyodata.jp/ontology/nanbyo#1000961 (rdf:type owl:Class )
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hasExactSynonym "Congenital mitral stenosis" @en
hasExactSynonym "mitral stenosis" @en
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rdfs:label "先天性僧帽弁狭窄症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005852
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020398
http://nanbyodata.jp/ontology/nanbyo#1000962 (rdf:type owl:Class )
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has_notification_number "313" xsd:string
dcterms:identifier "1000962" xsd:string
hasExactSynonym "Congenital pulmonary vein stenosis" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/313-201704-kojin.pdf
rdfs:label "先天性肺静脈狭窄症" @ja
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http://nanbyodata.jp/ontology/nanbyo#1000963 (rdf:type owl:Class )
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has_notification_number "314" xsd:string
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hasExactSynonym "PA sling" @en
hasExactSynonym "Pulmonary artery sling" @en
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rdfs:label "左肺動脈右肺動脈起始症" @ja
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hasExactSynonym "nail-patella syndrome/LMX1B-Associated Nephropathy" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/315-201704-kojin.pdf
rdfs:label "ネイルパテラ症候群(爪膝蓋骨症候群)/LMX1B関連腎症" @ja
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rdfs:label "ネイルパテラ症候群" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008061
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hasExactSynonym "LMX1B-Associated Nephropathy" @en
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http://nanbyodata.jp/ontology/nanbyo#1000967 (rdf:type owl:Class )
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has_notification_number "316" xsd:string
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hasExactSynonym "carnitine cycle disorders" @en
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rdfs:label "カルニチン回路異常症" @ja
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hasExactSynonym "Carnitine Palmitoyltransferase I deficiency" @en
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rdfs:label "CPT1欠損症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009705
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hasExactSynonym "Carnitine Palmitoyltransferase II deficiency" @en
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rdfs:label "CPT2欠損症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015515
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hasExactSynonym "Carnitine-acylcarnitine translocase deficiency" @en
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rdfs:label "CACT欠損症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008918
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hasExactSynonym "CDSP" @en
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rdfs:label "OCTN-2異常症" @ja
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hasExactSynonym "Mitochondrial Trifunctional protein deficiency" @en
hasExactSynonym "TFP" @en
hasExactSynonym "Trifunctional protein deficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/317-201704-kojin.pdf
rdfs:label "三頭酵素欠損症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012172
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hasExactSynonym "Trifunctional protein deficiency,lethal type" @en
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rdfs:label "新生児期発症型三頭酵素欠損症" @ja
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hasExactSynonym "Trifunctional protein deficiency,intermediate type" @en
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rdfs:label "乳幼児期発症型三頭酵素欠損症" @ja
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hasExactSynonym "Trifunctional protein deficiency,myopathic type" @en
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rdfs:label "遅発型三頭酵素欠損症" @ja
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hasExactSynonym "Citrin deficiency" @en
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rdfs:label "シトリン欠損症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011326
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016602
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has_notification_number "318" xsd:string
dcterms:identifier "1000977" xsd:string
hasExactSynonym "NICCD" @en
hasExactSynonym "neonatal intrahepatic cholestasis caused by citrin deficiency" @en
rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/318-201704-kojin.pdf
rdfs:label "新生児肝内胆汁うっ滞症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011601
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has_notification_number "318" xsd:string
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hasExactSynonym "CTLN2" @en
hasExactSynonym "adult-onset type II citrullinemia" @en
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rdfs:label "成人発症Ⅱ型シトルリン血症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011326
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has_notification_number "318" xsd:string
dcterms:identifier "1000979" xsd:string
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rdfs:label "適応・代償期シトリン欠損症" @ja
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http://nanbyodata.jp/ontology/nanbyo#1000980 (rdf:type owl:Class )
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hasExactSynonym "SRD" @en
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rdfs:isDefinedBy http://www.nanbyou.or.jp/upload_files/File/319-201704-kojin.pdf
rdfs:label "セピアプテリン還元酵素欠損症" @ja
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012994
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hasExactSynonym "Neonatal nonketotic hyperglycinemia" @en
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hasExactSynonym "beta-ketothiolase deficiency" @en
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hasExactSynonym "Idiopathic multicentric Castleman's disease" @en
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hasExactSynonym "gelatinous drop-like corneal dystrophy" @en
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hasExactSynonym "Mature B-cell lymphoblastic leukaemia" @en
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dcterms:identifier "3000012" xsd:string
hasExactSynonym "NK cell leukaemia" @en
hasExactSynonym "ナチュラルキラー細胞白血病" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_01_012_01.pdf
rdfs:label "NK細胞白血病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_01_012/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "13" xsd:string
dcterms:identifier "3000013" xsd:string
hasExactSynonym "CML" @en
hasExactSynonym "Chronic myeloid leukaemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_01_013_01.pdf
rdfs:label "慢性骨髄性白血病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_01_013/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0001014
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011996
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "14" xsd:string
dcterms:identifier "3000014" xsd:string
hasExactSynonym "Chronic myelomonocytic leukaemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_01_014_01.pdf
rdfs:label "慢性骨髄単球性白血病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_01_014/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "15" xsd:string
dcterms:identifier "3000015" xsd:string
hasExactSynonym "Juvenile myelomonocytic leukaemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_01_015_01.pdf
rdfs:label "若年性骨髄単球性白血病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_01_015/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000016 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "16" xsd:string
dcterms:identifier "3000016" xsd:string
hasExactSynonym "Other leukaemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_01_016_01.pdf
rdfs:label "1から15までに掲げるもののほか、白血病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_01_016/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "16" xsd:string
dcterms:identifier "3000017" xsd:string
hasExactSynonym "AUL" @en
hasExactSynonym "Acute leukemia of ambiguous lineage" @en
hasExactSynonym "Acute unclassified leukemia" @en
hasExactSynonym "Acute undifferentiated leukemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_01_016_01.pdf
rdfs:label "急性未分化型白血病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_01_016/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000016
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019460
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020321
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "16" xsd:string
dcterms:identifier "3000018" xsd:string
hasExactSynonym "MPAL" @en
hasExactSynonym "Mixed phenotype acute leukemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_01_016_01.pdf
rdfs:label "混合型急性白血病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_01_016/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000016
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019460
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020743
http://nanbyodata.jp/ontology/nanbyo#3000019 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "17" xsd:string
dcterms:identifier "3000019" xsd:string
hasExactSynonym "Myelodysplastic syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_02_017_01.pdf
rdfs:label "骨髄異形成症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_02_017/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018881
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0044873
http://nanbyodata.jp/ontology/nanbyo#3000020 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "18" xsd:string
dcterms:identifier "3000020" xsd:string
hasExactSynonym "Mature B-cell lymphoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_03_018_01.pdf
rdfs:label "成熟B細胞リンパ腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_03_018/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000021 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "19" xsd:string
dcterms:identifier "3000021" xsd:string
hasExactSynonym "Anaplastic large cell lymphoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_03_019_01.pdf
rdfs:label "未分化大細胞リンパ腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_03_019/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020325
http://nanbyodata.jp/ontology/nanbyo#3000022 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "20" xsd:string
dcterms:identifier "3000022" xsd:string
hasExactSynonym "Precursor B lymphoblastic lymphoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_03_020_01.pdf
rdfs:label "Bリンパ芽球性リンパ腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_03_020/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000023 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "21" xsd:string
dcterms:identifier "3000023" xsd:string
hasExactSynonym "Precursor T lymphoblastic lymphoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_03_021_01.pdf
rdfs:label "Tリンパ芽球性リンパ腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_03_021/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0044917
http://nanbyodata.jp/ontology/nanbyo#3000024 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "22" xsd:string
dcterms:identifier "3000024" xsd:string
hasExactSynonym "HL" @en
hasExactSynonym "Hodgkin lymphoma" @en
hasExactSynonym "Hodgkinリンパ腫" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_03_022_01.pdf
rdfs:label "ホジキンリンパ腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_03_022/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0004952
http://nanbyodata.jp/ontology/nanbyo#3000025 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "23" xsd:string
dcterms:identifier "3000025" xsd:string
hasExactSynonym "Other malignant lymphomas" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_03_023_01.pdf
rdfs:label "18から22までに掲げるもののほか、リンパ腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_03_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000026 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "23" xsd:string
dcterms:identifier "3000026" xsd:string
hasExactSynonym "Pediatric follicular lymphoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_03_023_01.pdf
rdfs:label "小児濾胞性リンパ腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_03_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000025
http://nanbyodata.jp/ontology/nanbyo#3000027 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "23" xsd:string
dcterms:identifier "3000027" xsd:string
hasExactSynonym "Extranodal NK/T-cell lymphoma, nasal type" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_03_023_01.pdf
rdfs:label "節外性NK/T細胞リンパ腫-鼻型" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_03_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000025
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019472
http://nanbyodata.jp/ontology/nanbyo#3000028 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "23" xsd:string
dcterms:identifier "3000028" xsd:string
hasExactSynonym "Peripheral T-cell lymphoma, not otherwise specified" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_03_023_01.pdf
rdfs:label "末梢性T細胞リンパ腫-非特定型" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_03_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000025
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0004964
http://nanbyodata.jp/ontology/nanbyo#3000029 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "23" xsd:string
dcterms:identifier "3000029" xsd:string
hasExactSynonym "Angioimmunoblastic T-cell lymphoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_03_023_01.pdf
rdfs:label "血管免疫芽球性T細胞リンパ腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_03_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000025
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0004977
http://nanbyodata.jp/ontology/nanbyo#3000030 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "23" xsd:string
dcterms:identifier "3000030" xsd:string
hasExactSynonym "Sucutaneous panniculitis-like T-cell lymphoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_03_023_01.pdf
rdfs:label "皮下脂肪織炎様T細胞リンパ腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_03_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000025
http://nanbyodata.jp/ontology/nanbyo#3000031 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "24" xsd:string
dcterms:identifier "3000031" xsd:string
hasExactSynonym "LCH" @en
hasExactSynonym "Langerhans cell histiocytosis" @en
hasExactSynonym "Langerhans細胞組織球症" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_04_024_01.pdf
rdfs:label "ランゲルハンス細胞組織球症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_04_024/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017025
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017029
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018310
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019450
http://nanbyodata.jp/ontology/nanbyo#3000032 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "25" xsd:string
dcterms:identifier "3000032" xsd:string
hasExactSynonym "HLH" @en
hasExactSynonym "Hemophagocytic lymphohistiocytosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_04_025_01.pdf
rdfs:label "血球貪食性リンパ組織球症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_04_025/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015540
http://nanbyodata.jp/ontology/nanbyo#3000033 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "26" xsd:string
dcterms:identifier "3000033" xsd:string
hasExactSynonym "Other histiocytosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_04_026_01.pdf
rdfs:label "24及び25に掲げるもののほか、組織球症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_04_026/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000034 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "26" xsd:string
dcterms:identifier "3000034" xsd:string
hasExactSynonym "Follicular dendritic cell sarcoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_04_026_01.pdf
rdfs:label "濾胞樹状細胞肉腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_04_026/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000033
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0004380
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005764
http://nanbyodata.jp/ontology/nanbyo#3000035 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "26" xsd:string
dcterms:identifier "3000035" xsd:string
hasExactSynonym "Interdigitating dendritic cell sarcoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_04_026_01.pdf
rdfs:label "指状嵌入樹状細胞肉腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_04_026/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000033
http://nanbyodata.jp/ontology/nanbyo#3000036 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "26" xsd:string
dcterms:identifier "3000036" xsd:string
hasExactSynonym "Langerhans cell sarcoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_04_026_01.pdf
rdfs:label "ランゲルハンス細胞肉腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_04_026/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000033
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019480
http://nanbyodata.jp/ontology/nanbyo#3000037 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "26" xsd:string
dcterms:identifier "3000037" xsd:string
hasExactSynonym "Juvenile xanthogranuloma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_04_026_01.pdf
rdfs:label "若年性黄色肉芽腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_04_026/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000033
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015534
http://nanbyodata.jp/ontology/nanbyo#3000038 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "26" xsd:string
dcterms:identifier "3000038" xsd:string
hasExactSynonym "Erdheim-Chester disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_04_026_01.pdf
rdfs:label "エルドハイム・チェスター病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_04_026/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000033
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018153
http://nanbyodata.jp/ontology/nanbyo#3000039 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "26" xsd:string
dcterms:identifier "3000039" xsd:string
hasExactSynonym "RDD" @en
hasExactSynonym "Rosai-Dorfman disease" @en
hasExactSynonym "Sinus histiocytosis with massive lymphadenopathy" @en
hasExactSynonym "塊状リンパ腺症を伴う洞組織球増多症" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_04_026_01.pdf
rdfs:label "ロサイ・ドルフマン病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_04_026/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000033
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0006412
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0044354
http://nanbyodata.jp/ontology/nanbyo#3000040 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "27" xsd:string
dcterms:identifier "3000040" xsd:string
hasExactSynonym "Neuroblastoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_027_01.pdf
rdfs:label "神経芽腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_027/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005072
http://nanbyodata.jp/ontology/nanbyo#3000041 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "28" xsd:string
dcterms:identifier "3000041" xsd:string
hasExactSynonym "Ganglioneuroblastoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_028_01.pdf
rdfs:label "神経節芽腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_028/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005035
http://nanbyodata.jp/ontology/nanbyo#3000042 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "29" xsd:string
dcterms:identifier "3000042" xsd:string
hasExactSynonym "Retinoblastoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_029_01.pdf
rdfs:label "網膜芽細胞腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_029/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008380
http://nanbyodata.jp/ontology/nanbyo#3000043 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "30" xsd:string
dcterms:identifier "3000043" xsd:string
hasExactSynonym "Nephroblastoma" @en
hasExactSynonym "Wilms tumour" @en
hasExactSynonym "ウィルムス腫瘍" @ja
hasExactSynonym "腎芽腫" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_030_01.pdf
rdfs:label "ウィルムス腫瘍/腎芽腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_030/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008679
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019004
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "31" xsd:string
dcterms:identifier "3000044" xsd:string
hasExactSynonym "Clear cell sarcoma of the kidney" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_031_01.pdf
rdfs:label "腎明細胞肉腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_031/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005006
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "32" xsd:string
dcterms:identifier "3000045" xsd:string
hasExactSynonym "Renal cell carcinoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_032_01.pdf
rdfs:label "腎細胞癌" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_032/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005086
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005549
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "33" xsd:string
dcterms:identifier "3000046" xsd:string
hasExactSynonym "Hepatoblastoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_033_01.pdf
rdfs:label "肝芽腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_033/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007256
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018666
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "34" xsd:string
dcterms:identifier "3000047" xsd:string
hasExactSynonym "Hepatocellular carcinoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_034_01.pdf
rdfs:label "肝細胞癌" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007256
http://nanbyodata.jp/ontology/nanbyo#3000048 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "35" xsd:string
dcterms:identifier "3000048" xsd:string
hasExactSynonym "Osteosarcoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_035_01.pdf
rdfs:label "骨肉腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_035/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002623
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009807
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "36" xsd:string
dcterms:identifier "3000049" xsd:string
hasExactSynonym "Osteochondromatosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_036_01.pdf
rdfs:label "骨軟骨腫症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_036/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005508
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007585
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008145
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "37" xsd:string
dcterms:identifier "3000050" xsd:string
hasExactSynonym "Chondrosarcoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_037_01.pdf
rdfs:label "軟骨肉腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_037/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008977
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "38" xsd:string
dcterms:identifier "3000051" xsd:string
hasExactSynonym "Chondroblastoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_038_01.pdf
rdfs:label "軟骨芽細胞腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_038/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0004997
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "39" xsd:string
dcterms:identifier "3000052" xsd:string
hasExactSynonym "Malignancy in giant cell tumour of bone" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_039_01.pdf
rdfs:label "悪性骨巨細胞腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_039/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "40" xsd:string
dcterms:identifier "3000053" xsd:string
hasExactSynonym "Ewing's sarcoma" @en
hasExactSynonym "Ewing肉腫" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_040_01.pdf
rdfs:label "ユーイング肉腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_040/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012817
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "41" xsd:string
dcterms:identifier "3000054" xsd:string
hasExactSynonym "primitive neuroectodermal tumors" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_041_01.pdf
rdfs:label "未分化神経外胚葉性腫瘍" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_041/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "41" xsd:string
dcterms:identifier "3000055" xsd:string
hasExactSynonym "Peripheral primitive neuroectodermal tumors" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_041_01.pdf
rdfs:label "末梢性未分化神経外胚葉性腫瘍" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_041/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000054
http://nanbyodata.jp/ontology/nanbyo#3000056 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "42" xsd:string
dcterms:identifier "3000056" xsd:string
hasExactSynonym "Rhabdomyosarcoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_042_01.pdf
rdfs:label "横紋筋肉腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_042/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005212
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "43" xsd:string
dcterms:identifier "3000057" xsd:string
hasExactSynonym "Malignant rhabdoid tumour" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_043_01.pdf
rdfs:label "悪性ラブドイド腫瘍" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_043/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002728
http://nanbyodata.jp/ontology/nanbyo#3000058 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "44" xsd:string
dcterms:identifier "3000058" xsd:string
hasExactSynonym "Undifferentiated sarcoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_044_01.pdf
rdfs:label "未分化肉腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_044/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005102
http://nanbyodata.jp/ontology/nanbyo#3000059 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "45" xsd:string
dcterms:identifier "3000059" xsd:string
hasExactSynonym "Dermatofibrosarcoma protuberans" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_045_01.pdf
rdfs:label "線維形成性小円形細胞腫瘍" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_045/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011934
http://nanbyodata.jp/ontology/nanbyo#3000060 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "46" xsd:string
dcterms:identifier "3000060" xsd:string
hasExactSynonym "Fibrosarcoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_046_01.pdf
rdfs:label "線維肉腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_046/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002676
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002678
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005164
http://nanbyodata.jp/ontology/nanbyo#3000061 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "47" xsd:string
dcterms:identifier "3000061" xsd:string
hasExactSynonym "Synovial sarcoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_047_01.pdf
rdfs:label "滑膜肉腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_047/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010434
http://nanbyodata.jp/ontology/nanbyo#3000062 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "48" xsd:string
dcterms:identifier "3000062" xsd:string
hasExactSynonym "Clear cell sarcoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_048_01.pdf
rdfs:label "明細胞肉腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_048/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002926
http://nanbyodata.jp/ontology/nanbyo#3000063 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "49" xsd:string
dcterms:identifier "3000063" xsd:string
hasExactSynonym "Alveolar soft part sarcoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_049_01.pdf
rdfs:label "胞巣状軟部肉腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_049/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011655
http://nanbyodata.jp/ontology/nanbyo#3000064 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "50" xsd:string
dcterms:identifier "3000064" xsd:string
hasExactSynonym "Leiomyosarcoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_050_01.pdf
rdfs:label "平滑筋肉腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_050/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005058
http://nanbyodata.jp/ontology/nanbyo#3000065 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "51" xsd:string
dcterms:identifier "3000065" xsd:string
hasExactSynonym "Liposarcoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_051_01.pdf
rdfs:label "脂肪肉腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_051/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0003585
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0003587
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005060
http://nanbyodata.jp/ontology/nanbyo#3000066 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "52" xsd:string
dcterms:identifier "3000066" xsd:string
hasExactSynonym "Dysgerminoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_052_01.pdf
rdfs:label "未分化胚細胞腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_052/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0003002
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0003481
http://nanbyodata.jp/ontology/nanbyo#3000067 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "53" xsd:string
dcterms:identifier "3000067" xsd:string
hasExactSynonym "Embryonal carcinoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_053_01.pdf
rdfs:label "胎児性癌" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_053/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0003581
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005440
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018843
http://nanbyodata.jp/ontology/nanbyo#3000068 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "54" xsd:string
dcterms:identifier "3000068" xsd:string
hasExactSynonym "Polyembryoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_054_01.pdf
rdfs:label "多胎芽腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_054/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0003989
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015863
http://nanbyodata.jp/ontology/nanbyo#3000069 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "55" xsd:string
dcterms:identifier "3000069" xsd:string
hasExactSynonym "Yolk sac tumour" @en
hasExactSynonym "卵黄嚢腫瘍" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_055_01.pdf
rdfs:label "卵黄嚢腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_055/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000070 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "56" xsd:string
dcterms:identifier "3000070" xsd:string
hasExactSynonym "Choriocarcinoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_056_01.pdf
rdfs:label "絨毛癌" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_056/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0003508
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0004491
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005207
http://nanbyodata.jp/ontology/nanbyo#3000071 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "57" xsd:string
dcterms:identifier "3000071" xsd:string
hasExactSynonym "Mixed germ cell tumour" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_057_01.pdf
rdfs:label "混合性胚細胞腫瘍" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_057/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015864
http://nanbyodata.jp/ontology/nanbyo#3000072 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "58" xsd:string
dcterms:identifier "3000072" xsd:string
hasExactSynonym "Sox-cord stromal tumour" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_058_01.pdf
rdfs:label "性索間質性腫瘍" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_058/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000073 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "59" xsd:string
dcterms:identifier "3000073" xsd:string
hasExactSynonym "Epipharyngeal carcinoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_059_01.pdf
rdfs:label "副腎皮質癌" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_059/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000074 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "60" xsd:string
dcterms:identifier "3000074" xsd:string
hasExactSynonym "Thyroid cancer" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_060_01.pdf
rdfs:label "甲状腺癌" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_060/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002108
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015075
http://nanbyodata.jp/ontology/nanbyo#3000075 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "61" xsd:string
dcterms:identifier "3000075" xsd:string
hasExactSynonym "Epipharyngeal carcinoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_061_01.pdf
rdfs:label "上咽頭癌" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_061/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000076 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "62" xsd:string
dcterms:identifier "3000076" xsd:string
hasExactSynonym "Salivery grand carcinoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_062_01.pdf
rdfs:label "唾液腺癌" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_062/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000077 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "63" xsd:string
dcterms:identifier "3000077" xsd:string
hasExactSynonym "Malignant melanoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_063_01.pdf
rdfs:label "悪性黒色腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_063/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005105
http://nanbyodata.jp/ontology/nanbyo#3000078 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "64" xsd:string
dcterms:identifier "3000078" xsd:string
hasExactSynonym "Pheochromocytoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_064_01.pdf
rdfs:label "褐色細胞腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_064/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0004974
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008233
http://nanbyodata.jp/ontology/nanbyo#3000079 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "65" xsd:string
dcterms:identifier "3000079" xsd:string
hasExactSynonym "Malignant thymoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_065_01.pdf
rdfs:label "悪性胸腺腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_065/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0006451
http://nanbyodata.jp/ontology/nanbyo#3000080 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "66" xsd:string
dcterms:identifier "3000080" xsd:string
hasExactSynonym "Pleuropulmonaryblastoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_066_01.pdf
rdfs:label "胸膜肺芽腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_066/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011014
http://nanbyodata.jp/ontology/nanbyo#3000081 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "67" xsd:string
dcterms:identifier "3000081" xsd:string
hasExactSynonym "Bronchial tumour" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_067_01.pdf
rdfs:label "気管支腫瘍" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_067/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000082 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "68" xsd:string
dcterms:identifier "3000082" xsd:string
hasExactSynonym "Pancreatoblastoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_068_01.pdf
rdfs:label "膵芽腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_068/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019035
http://nanbyodata.jp/ontology/nanbyo#3000083 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "69" xsd:string
dcterms:identifier "3000083" xsd:string
hasExactSynonym "Other solid tumours" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_069_01.pdf
rdfs:label "27から68までに掲げるもののほか、固形腫瘍" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_069/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000084 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "70" xsd:string
dcterms:identifier "3000084" xsd:string
hasExactSynonym "Pilocytic astrocytoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_06_070_01.pdf
rdfs:label "毛様細胞性星細胞腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_06_070/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0004000
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016691
http://nanbyodata.jp/ontology/nanbyo#3000085 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "71" xsd:string
dcterms:identifier "3000085" xsd:string
hasExactSynonym "Diffuse astrocytoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_06_071_01.pdf
rdfs:label "びまん性星細胞腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_06_071/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016686
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016688
http://nanbyodata.jp/ontology/nanbyo#3000086 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "72" xsd:string
dcterms:identifier "3000086" xsd:string
hasExactSynonym "Anaplastic astrocytoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_06_072_01.pdf
rdfs:label "退形成性星細胞腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_06_072/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016684
http://nanbyodata.jp/ontology/nanbyo#3000087 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "73" xsd:string
dcterms:identifier "3000087" xsd:string
hasExactSynonym "Glioblastoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_06_073_01.pdf
rdfs:label "膠芽腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_06_073/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018177
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020690
http://nanbyodata.jp/ontology/nanbyo#3000088 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "74" xsd:string
dcterms:identifier "3000088" xsd:string
hasExactSynonym "Ependymoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_06_074_01.pdf
rdfs:label "上衣腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_06_074/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0003478
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016698
http://nanbyodata.jp/ontology/nanbyo#3000089 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "75" xsd:string
dcterms:identifier "3000089" xsd:string
hasExactSynonym "Oligodendroglioma" @en
hasExactSynonym "乏突起膠腫" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_06_075_01.pdf
rdfs:label "乏突起神経膠腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_06_075/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002540
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002543
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016695
http://nanbyodata.jp/ontology/nanbyo#3000090 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "76" xsd:string
dcterms:identifier "3000090" xsd:string
hasExactSynonym "Medulloblastoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_06_076_01.pdf
rdfs:label "髄芽腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_06_076/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002794
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002797
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007959
http://nanbyodata.jp/ontology/nanbyo#3000091 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "77" xsd:string
dcterms:identifier "3000091" xsd:string
hasExactSynonym "Craniopharyngioma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_06_077_01.pdf
rdfs:label "頭蓋咽頭腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_06_077/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018907
http://nanbyodata.jp/ontology/nanbyo#3000092 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "78" xsd:string
dcterms:identifier "3000092" xsd:string
hasExactSynonym "Pineocytoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_06_078_01.pdf
rdfs:label "松果体腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_06_078/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016723
http://nanbyodata.jp/ontology/nanbyo#3000093 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "79" xsd:string
dcterms:identifier "3000093" xsd:string
hasExactSynonym "Choroid plexus papilloma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_06_079_01.pdf
rdfs:label "脈絡叢乳頭腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_06_079/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009837
http://nanbyodata.jp/ontology/nanbyo#3000094 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "80" xsd:string
dcterms:identifier "3000094" xsd:string
hasExactSynonym "Meningioma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_06_080_01.pdf
rdfs:label "髄膜腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_06_080/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0003057
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016642
http://nanbyodata.jp/ontology/nanbyo#3000095 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "81" xsd:string
dcterms:identifier "3000095" xsd:string
hasExactSynonym "Pituitary adenoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_06_081_01.pdf
rdfs:label "下垂体腺腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_06_081/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0006373
http://nanbyodata.jp/ontology/nanbyo#3000096 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "82" xsd:string
dcterms:identifier "3000096" xsd:string
hasExactSynonym "Ganglioglioma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_06_082_01.pdf
rdfs:label "神経節膠腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_06_082/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016733
http://nanbyodata.jp/ontology/nanbyo#3000097 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "83" xsd:string
dcterms:identifier "3000097" xsd:string
hasExactSynonym "Gangliocytoma" @en
hasExactSynonym "神経節細胞腫" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_06_083_01.pdf
rdfs:label "神経節腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_06_083/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016730
http://nanbyodata.jp/ontology/nanbyo#3000098 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "84" xsd:string
dcterms:identifier "3000098" xsd:string
hasExactSynonym "Gangliocytoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_06_084_01.pdf
rdfs:label "脊索腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_06_084/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016730
http://nanbyodata.jp/ontology/nanbyo#3000099 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "85" xsd:string
dcterms:identifier "3000099" xsd:string
hasExactSynonym "primitive neuroectodermal tumour" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_041_01.pdf
rdfs:label "未分化神経外胚葉性腫瘍" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_041/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000100 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "85" xsd:string
dcterms:identifier "3000100" xsd:string
hasExactSynonym "Primitive neuroectodermal tumour of the central nervous system" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_05_041_01.pdf
rdfs:label "中枢神経系原始神経外胚葉性腫瘍" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_05_041/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000099
http://nanbyodata.jp/ontology/nanbyo#3000101 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "86" xsd:string
dcterms:identifier "3000101" xsd:string
hasExactSynonym "AT/RT" @en
hasExactSynonym "Atypical teratoid, rhabdoid tumour" @en
hasExactSynonym "非定型奇形腫様ラブドイド腫瘍" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_06_086_01.pdf
rdfs:label "異型奇形腫瘍/ラブドイド腫瘍" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_06_086/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012252
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020560
http://nanbyodata.jp/ontology/nanbyo#3000102 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "87" xsd:string
dcterms:identifier "3000102" xsd:string
hasExactSynonym "Malignant neurinoma" @en
hasExactSynonym "悪性末梢神経鞘腫瘍" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_06_087_01.pdf
rdfs:label "悪性神経鞘腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_06_087/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000103 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "88" xsd:string
dcterms:identifier "3000103" xsd:string
hasExactSynonym "Neurinoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_06_088_01.pdf
rdfs:label "神経鞘腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_06_088/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002546
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008075
http://nanbyodata.jp/ontology/nanbyo#3000104 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "89" xsd:string
dcterms:identifier "3000104" xsd:string
hasExactSynonym "Teratoma of the central nervous system" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_06_089_01.pdf
rdfs:label "奇形腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_06_089/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002718
http://nanbyodata.jp/ontology/nanbyo#3000105 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "89" xsd:string
dcterms:identifier "3000105" xsd:string
hasExactSynonym "immature teratoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_06_089_01.pdf
rdfs:label "未成熟奇形腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_06_089/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000104
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0003514
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0003735
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018369
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0024746
http://nanbyodata.jp/ontology/nanbyo#3000106 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "89" xsd:string
dcterms:identifier "3000106" xsd:string
hasExactSynonym "teratoma with malignant transformation" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_06_089_01.pdf
rdfs:label "悪性転化を伴う奇形腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_06_089/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000104
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0006444
http://nanbyodata.jp/ontology/nanbyo#3000107 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "90" xsd:string
dcterms:identifier "3000107" xsd:string
hasExactSynonym "Intracranial germ cell tumour" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_06_090_01.pdf
rdfs:label "頭蓋内胚細胞腫瘍" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_06_090/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "91" xsd:string
dcterms:identifier "3000108" xsd:string
hasExactSynonym "Other tumours of the central nervous system" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_01_06_091_01.pdf
rdfs:label "70から90までに掲げるもののほか、中枢神経系腫瘍" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/01_06_091/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "92" xsd:string
dcterms:identifier "3000109" xsd:string
hasExactSynonym "CNF" @en
hasExactSynonym "Congenital nephrotic syndrome of the Finnish type" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_01_001_01.pdf
rdfs:label "フィンランド型先天性ネフローゼ症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_01_001/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009732
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "93" xsd:string
dcterms:identifier "3000110" xsd:string
hasExactSynonym "DMS" @en
hasExactSynonym "Diffuse mesangial sclerosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_01_002_01.pdf
rdfs:label "びまん性メサンギウム硬化症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_01_002/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009733
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "94" xsd:string
dcterms:identifier "3000111" xsd:string
hasExactSynonym "MCNS" @en
hasExactSynonym "Minimal change nephrotic syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_01_003_01.pdf
rdfs:label "微小変化型ネフローゼ症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_01_003/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0006835
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "95" xsd:string
dcterms:identifier "3000112" xsd:string
hasExactSynonym "FSGS" @en
hasExactSynonym "Focal segmental glomerulosclerosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_01_004_01.pdf
rdfs:label "巣状分節性糸球体硬化症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_01_004/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005363
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "96" xsd:string
dcterms:identifier "3000113" xsd:string
hasExactSynonym "Membranous nephropathy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_01_005_01.pdf
rdfs:label "膜性腎症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_01_005/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005376
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "97" xsd:string
dcterms:identifier "3000114" xsd:string
hasExactSynonym "Other nephrotic syndromes" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_01_006_01.pdf
rdfs:label "1から5までに掲げるもののほか、ネフローゼ症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_01_006/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "97" xsd:string
dcterms:identifier "3000115" xsd:string
hasExactSynonym "Denys-Drash syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_01_006_01.pdf
rdfs:label "Denys-Drash症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_01_006/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000114
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008682
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "97" xsd:string
dcterms:identifier "3000116" xsd:string
hasExactSynonym "Pierson syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_01_006_01.pdf
rdfs:label "Pierson症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_01_006/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000114
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012184
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "97" xsd:string
dcterms:identifier "3000117" xsd:string
hasExactSynonym "" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_01_006_01.pdf
rdfs:label "中枢神経奇形症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_01_006/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000114
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "97" xsd:string
dcterms:identifier "3000118" xsd:string
hasExactSynonym "Junctional epidermolysis bullosa, Herlitz-type" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_01_006_01.pdf
rdfs:label "Herlitz致死型表皮水疱症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_01_006/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000114
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009182
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "97" xsd:string
dcterms:identifier "3000119" xsd:string
hasExactSynonym "Galloway-Mowat syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_01_006_01.pdf
rdfs:label "ギャロウェイモワト症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_01_006/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000114
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009627
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "98" xsd:string
dcterms:identifier "3000120" xsd:string
hasExactSynonym "IgA nephropathy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_02_007_01.pdf
rdfs:label "IgA腎症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_02_007/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005342
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "99" xsd:string
dcterms:identifier "3000121" xsd:string
hasExactSynonym "MesPGN" @en
hasExactSynonym "Mesangial proliferative glomerulonephritis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_02_008_01.pdf
rdfs:label "メサンギウム増殖性糸球体腎炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_02_008/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0003139
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "100" xsd:string
dcterms:identifier "3000122" xsd:string
hasExactSynonym "MPGN" @en
hasExactSynonym "Membranoproliferative glomerulonephritis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_02_009_01.pdf
rdfs:label "膜性増殖性糸球体腎炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_02_009/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002461
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018904
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "101" xsd:string
dcterms:identifier "3000123" xsd:string
hasExactSynonym "HSPN" @en
hasExactSynonym "Henoch-Schonlein purpura nephritis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_02_010_01.pdf
rdfs:label "紫斑病性腎炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_02_010/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "102" xsd:string
dcterms:identifier "3000124" xsd:string
hasExactSynonym "Goodpasture syndrome" @en
hasExactSynonym "グッドパスチャー症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_02_011_01.pdf
rdfs:label "抗糸球体基底膜腎炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_02_011/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009303
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "103" xsd:string
dcterms:identifier "3000125" xsd:string
hasExactSynonym "AS" @en
hasExactSynonym "chronic glomerulonephritis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_02_012_01.pdf
rdfs:label "慢性糸球体腎炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_02_012/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0004978
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007113
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019344
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "104" xsd:string
dcterms:identifier "3000126" xsd:string
hasExactSynonym "Epstein syndrome" @en
hasExactSynonym "Epstein症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_02_013_01.pdf
rdfs:label "エプスタイン症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_02_013/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007929
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015912
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "105" xsd:string
dcterms:identifier "3000127" xsd:string
hasExactSynonym "LN" @en
hasExactSynonym "Lupus Nephritis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_02_014_01.pdf
rdfs:label "ループス腎炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_02_014/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002486
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005556
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "106" xsd:string
dcterms:identifier "3000128" xsd:string
hasExactSynonym "rapidly progressive glomerulonephritis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_02_015_01.pdf
rdfs:label "急速進行性糸球体腎炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_02_015/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017236
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "106" xsd:string
dcterms:identifier "3000129" xsd:string
hasExactSynonym "" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_02_015_01.pdf
rdfs:label "顕微鏡的多発血管炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_02_015/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000128
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "107" xsd:string
dcterms:identifier "3000130" xsd:string
hasExactSynonym "rapidly progressive glomerulonephritis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_02_015_01.pdf
rdfs:label "急速進行性糸球体腎炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_02_015/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017236
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "107" xsd:string
dcterms:identifier "3000131" xsd:string
hasExactSynonym "Granulomatosis with polyangiitis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_02_015_01.pdf
rdfs:label "多発血管炎性肉芽腫症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_02_015/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000130
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012105
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "108" xsd:string
dcterms:identifier "3000132" xsd:string
hasExactSynonym "Atypical haemolytic uraemic syndrome" @en
hasExactSynonym "aHUS" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_02_017_01.pdf
rdfs:label "非典型溶血性尿毒症症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_02_017/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016244
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "109" xsd:string
dcterms:identifier "3000133" xsd:string
hasExactSynonym "Nail-patella syndrome" @en
hasExactSynonym "aHUS" @en
hasExactSynonym "爪膝蓋症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_02_018_01.pdf
rdfs:label "ネイル・パテラ症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_02_018/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008061
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016244
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "110" xsd:string
dcterms:identifier "3000134" xsd:string
hasExactSynonym "Glomerulopathy with fibronectin deposits, fibronectin nephropathy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_02_019_01.pdf
rdfs:label "フィブロネクチン腎症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_02_019/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "111" xsd:string
dcterms:identifier "3000135" xsd:string
hasExactSynonym "Lipoprotein glomerulopathy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_02_020_01.pdf
rdfs:label "リポタンパク糸球体症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_02_020/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012725
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "112" xsd:string
dcterms:identifier "3000136" xsd:string
hasExactSynonym "Others chronic glomerulonephritis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_02_021_01.pdf
rdfs:label "7から20までに掲げるもののほか、慢性糸球体腎炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_02_021/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000137 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "113" xsd:string
dcterms:identifier "3000137" xsd:string
hasExactSynonym "TIN" @en
hasExactSynonym "Tubulointerstitial nephritis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_03_022_01.pdf
rdfs:label "慢性尿細管間質性腎炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_03_022/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0001085
http://nanbyodata.jp/ontology/nanbyo#3000138 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "114" xsd:string
dcterms:identifier "3000138" xsd:string
hasExactSynonym "Chronic pyelonephritis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_04_023_01.pdf
rdfs:label "慢性腎盂腎炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_04_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0001110
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "115" xsd:string
dcterms:identifier "3000139" xsd:string
hasExactSynonym "Amyloid nephropathy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_05_024_01.pdf
rdfs:label "アミロイド腎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_05_024/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000140 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "116" xsd:string
dcterms:identifier "3000140" xsd:string
hasExactSynonym "FJHN" @en
hasExactSynonym "Familial juvenile hyperuricaemic nephropathy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_06_025_01.pdf
rdfs:label "家族性若年性高尿酸血症性腎症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_06_025/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000608
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008073
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "117" xsd:string
dcterms:identifier "3000141" xsd:string
hasExactSynonym "NPH" @en
hasExactSynonym "Nephronophthisis" @en
hasExactSynonym "juvenile nephronophthisis " @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_07_026_01.pdf
rdfs:label "ネフロン癆" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_07_026/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009366
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009728
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019005
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "118" xsd:string
dcterms:identifier "3000142" xsd:string
hasExactSynonym "Renovascular hypertension" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_08_027_01.pdf
rdfs:label "腎血管性高血圧" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_08_027/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0001105
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0006947
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "119" xsd:string
dcterms:identifier "3000143" xsd:string
hasExactSynonym "RVT" @en
hasExactSynonym "Renal vein thrombosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_09_028_01.pdf
rdfs:label "腎静脈血栓症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_09_028/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000144 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "120" xsd:string
dcterms:identifier "3000144" xsd:string
hasExactSynonym "Renal arteriovenous fistula" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_10_029_01.pdf
rdfs:label "腎動静脈瘻" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_10_029/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000145 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "121" xsd:string
dcterms:identifier "3000145" xsd:string
hasExactSynonym "RTA" @en
hasExactSynonym "Renal tubular acidosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_11_030_01.pdf
rdfs:label "尿細管性アシドーシス" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_11_030/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0001909
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "122" xsd:string
dcterms:identifier "3000146" xsd:string
hasExactSynonym "Gitelman Bartter syndrome" @en
hasExactSynonym "Gitelman症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_12_031_01.pdf
rdfs:label "ギッテルマン症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_12_031/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "123" xsd:string
dcterms:identifier "3000147" xsd:string
hasExactSynonym "Bartter Gitelman syndrome" @en
hasExactSynonym "Bartter症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_13_032_01.pdf
rdfs:label "バーター症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_13_032/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "124" xsd:string
dcterms:identifier "3000148" xsd:string
hasExactSynonym "Nephro- and urolithiasis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_14_033_01.pdf
rdfs:label "腎尿管結石" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_14_033/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "125" xsd:string
dcterms:identifier "3000149" xsd:string
hasExactSynonym "Chronic renal failure" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_15_034_01.pdf
rdfs:label "慢性腎不全" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_15_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005300
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0024327
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "125" xsd:string
dcterms:identifier "3000150" xsd:string
hasExactSynonym "" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_15_034_01.pdf
rdfs:label "腎腫瘍" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_15_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000149
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "126" xsd:string
dcterms:identifier "3000151" xsd:string
hasExactSynonym "Chronic renal failure" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_15_034_01.pdf
rdfs:label "慢性腎不全" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_15_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005300
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0024327
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "126" xsd:string
dcterms:identifier "3000152" xsd:string
hasExactSynonym "Chronic renal failure due to acute tubular necrosis" @en
hasExactSynonym "acute tubular necrosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_15_034_01.pdf
rdfs:label "急性尿細管壊死" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_15_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000151
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0006637
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "126" xsd:string
dcterms:identifier "3000153" xsd:string
hasExactSynonym "Chronic renal failure due to renal ischemias" @en
hasExactSynonym "renal ischemias" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_15_034_01.pdf
rdfs:label "腎虚血" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_15_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000151
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "127" xsd:string
dcterms:identifier "3000154" xsd:string
hasExactSynonym "PKD" @en
hasExactSynonym "Polycystic kidney disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_15_035_01.pdf
rdfs:label "多発性嚢胞腎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_15_035/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020642
http://nanbyodata.jp/ontology/nanbyo#3000155 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "127" xsd:string
dcterms:identifier "3000155" xsd:string
hasExactSynonym "ADPKD" @en
hasExactSynonym "Autosomal dominant PKD" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_15_035_01.pdf
rdfs:label "常染色体優性多嚢胞腎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_15_035/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000154
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0004691
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "127" xsd:string
dcterms:identifier "3000156" xsd:string
hasExactSynonym "ARPKD" @en
hasExactSynonym "Autosomal recessive PKD" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_15_035_01.pdf
rdfs:label "常染色体劣性多嚢胞腎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_15_035/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000154
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009889
http://nanbyodata.jp/ontology/nanbyo#3000157 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "128" xsd:string
dcterms:identifier "3000157" xsd:string
hasExactSynonym "Hypoplastic kidney" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_16_036_01.pdf
rdfs:label "低形成腎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_16_036/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000158 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "129" xsd:string
dcterms:identifier "3000158" xsd:string
hasExactSynonym "Renal aplasia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_16_037_01.pdf
rdfs:label "腎無形成" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_16_037/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018470
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0024519
http://nanbyodata.jp/ontology/nanbyo#3000159 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "130" xsd:string
dcterms:identifier "3000159" xsd:string
hasExactSynonym "Potter sequence" @en
hasExactSynonym "Potter syndrome" @en
hasExactSynonym "Potter症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_16_038_01.pdf
rdfs:label "ポッター症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_16_038/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0001558
http://nanbyodata.jp/ontology/nanbyo#3000160 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "131" xsd:string
dcterms:identifier "3000160" xsd:string
hasExactSynonym "MCDK" @en
hasExactSynonym "Multicystic dysplastic kidney" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_16_039_01.pdf
rdfs:label "多嚢胞性異形成腎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_16_039/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015988
http://nanbyodata.jp/ontology/nanbyo#3000161 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "132" xsd:string
dcterms:identifier "3000161" xsd:string
hasExactSynonym "Oligomeganephronia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_16_040_01.pdf
rdfs:label "寡巨大糸球体症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_16_040/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016407
http://nanbyodata.jp/ontology/nanbyo#3000162 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "133" xsd:string
dcterms:identifier "3000162" xsd:string
hasExactSynonym "Other renal malformations" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf
rdfs:label "36から41までに掲げるもののほか、腎奇形" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_16_041/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000163 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "133" xsd:string
dcterms:identifier "3000163" xsd:string
hasExactSynonym "renal dysplasia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf
rdfs:label "腎異形成" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_16_041/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000162
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019638
http://nanbyodata.jp/ontology/nanbyo#3000164 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "133" xsd:string
dcterms:identifier "3000164" xsd:string
hasExactSynonym "Supernumerary kidney" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf
rdfs:label "過剰腎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_16_041/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000162
http://nanbyodata.jp/ontology/nanbyo#3000165 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "133" xsd:string
dcterms:identifier "3000165" xsd:string
hasExactSynonym "Ectopic pelvic kidney" @en
hasExactSynonym "Pelvic kidney" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf
rdfs:label "骨盤腎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_16_041/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000162
http://nanbyodata.jp/ontology/nanbyo#3000166 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "133" xsd:string
dcterms:identifier "3000166" xsd:string
hasExactSynonym "crossed renal ectopia without fusion" @en
hasExactSynonym "非融合性交叉性腎変位" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf
rdfs:label "交差性変位腎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_16_041/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000162
http://nanbyodata.jp/ontology/nanbyo#3000167 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "133" xsd:string
dcterms:identifier "3000167" xsd:string
hasExactSynonym "lumber ectopic kidney" @en
hasExactSynonym "lumber kidney " @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf
rdfs:label "腰部変位腎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_16_041/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000162
http://nanbyodata.jp/ontology/nanbyo#3000168 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "133" xsd:string
dcterms:identifier "3000168" xsd:string
hasExactSynonym "throacic kidney" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf
rdfs:label "胸部腎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_16_041/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000162
http://nanbyodata.jp/ontology/nanbyo#3000169 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "133" xsd:string
dcterms:identifier "3000169" xsd:string
hasExactSynonym "crossed fused kidney" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf
rdfs:label "交差性融合腎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_16_041/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000162
http://nanbyodata.jp/ontology/nanbyo#3000170 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "133" xsd:string
dcterms:identifier "3000170" xsd:string
hasExactSynonym "fused pelvic kidney" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf
rdfs:label "骨盤部融合腎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_16_041/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000162
http://nanbyodata.jp/ontology/nanbyo#3000171 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "133" xsd:string
dcterms:identifier "3000171" xsd:string
hasExactSynonym "horseshoe kidney" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf
rdfs:label "馬蹄腎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_16_041/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000162
http://nanbyodata.jp/ontology/nanbyo#3000172 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "133" xsd:string
dcterms:identifier "3000172" xsd:string
hasExactSynonym "medullary cystic kidney disease" @en
hasExactSynonym "髄質性嚢胞腎" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf
rdfs:label "髄質嚢胞腎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_16_041/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000162
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008264
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019005
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "133" xsd:string
dcterms:identifier "3000173" xsd:string
hasExactSynonym "multilocular cysts of the kidney" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf
rdfs:label "多房性腎嚢胞" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_16_041/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000162
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "133" xsd:string
dcterms:identifier "3000174" xsd:string
hasExactSynonym "simple renal cyst" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf
rdfs:label "単純性腎嚢胞" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_16_041/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000162
http://nanbyodata.jp/ontology/nanbyo#3000175 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "133" xsd:string
dcterms:identifier "3000175" xsd:string
hasExactSynonym "Medullary Sponge Kidney" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf
rdfs:label "髄質海綿腎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_16_041/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000162
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015268
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "133" xsd:string
dcterms:identifier "3000176" xsd:string
hasExactSynonym "acquired cystic disease of the kidney" @en
hasExactSynonym "多嚢胞化萎縮腎 " @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf
rdfs:label "後天性嚢胞性腎疾患" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_16_041/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000162
http://nanbyodata.jp/ontology/nanbyo#3000177 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "133" xsd:string
dcterms:identifier "3000177" xsd:string
hasExactSynonym "calyceal diverticulum" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf
rdfs:label "腎杯憩室" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_16_041/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000162
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "133" xsd:string
dcterms:identifier "3000178" xsd:string
hasExactSynonym "ureteropelvic junction obstruction" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf
rdfs:label "先天性水腎症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_16_041/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000162
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0027676
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "133" xsd:string
dcterms:identifier "3000179" xsd:string
hasExactSynonym "megacalycosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_16_041_01.pdf
rdfs:label "巨大腎杯症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_16_041/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000162
http://nanbyodata.jp/ontology/nanbyo#3000180 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "134" xsd:string
dcterms:identifier "3000180" xsd:string
hasExactSynonym "Obstructive uropathy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_16_042_01.pdf
rdfs:label "閉塞性尿路疾患" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_16_042/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0003330
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "135" xsd:string
dcterms:identifier "3000181" xsd:string
hasExactSynonym "VUR" @en
hasExactSynonym "Vesicoureteral reflux" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_17_043_01.pdf
rdfs:label "膀胱尿管逆流" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_17_043/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008653
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "136" xsd:string
dcterms:identifier "3000182" xsd:string
hasExactSynonym "Duplex Collecting System" @en
hasExactSynonym "Other urinary tract malformations" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_17_044_01.pdf
rdfs:label "43及び44に掲げるもののほか、尿路奇形" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_17_044/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "136" xsd:string
dcterms:identifier "3000183" xsd:string
hasExactSynonym "ectopic ureteral orifice" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_17_044_01.pdf
rdfs:label "異所開口尿管" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_17_044/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000182
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "136" xsd:string
dcterms:identifier "3000184" xsd:string
hasExactSynonym "ureteroceles" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_17_044_01.pdf
rdfs:label "尿管瘤" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_17_044/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000182
http://nanbyodata.jp/ontology/nanbyo#3000185 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "136" xsd:string
dcterms:identifier "3000185" xsd:string
hasExactSynonym "Megaureter" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_17_044_01.pdf
rdfs:label "巨大尿管症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_17_044/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000182
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "136" xsd:string
dcterms:identifier "3000186" xsd:string
hasExactSynonym "Prune belly syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_17_044_01.pdf
rdfs:label "Prune belly症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_17_044/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000182
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007032
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "137" xsd:string
dcterms:identifier "3000187" xsd:string
hasExactSynonym "Atrophic kidney" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_17_045_01.pdf
rdfs:label "萎縮腎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_17_045/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "138" xsd:string
dcterms:identifier "3000188" xsd:string
hasExactSynonym "Fanconi syndrome" @en
hasExactSynonym "Fanconi症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_18_046_01.pdf
rdfs:label "ファンコーニ症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_18_046/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0001083
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "139" xsd:string
dcterms:identifier "3000189" xsd:string
hasExactSynonym "Lowe syndrome" @en
hasExactSynonym "Lowe症候群" @ja
hasExactSynonym "oculocerebrorenal syndrome of Lowe" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_19_047_01.pdf
rdfs:label "ロウ症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_19_047/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010645
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "140" xsd:string
dcterms:identifier "3000190" xsd:string
hasExactSynonym "airway obstruction and stenosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_20_048_01.pdf
rdfs:label "気道狭窄" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_20_048/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "140" xsd:string
dcterms:identifier "3000191" xsd:string
hasExactSynonym "laryngeal stenosis and supraglottic/glottic/subglottic stenosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_20_048_01.pdf
rdfs:label "喉頭狭窄" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_20_048/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000190
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "140" xsd:string
dcterms:identifier "3000192" xsd:string
hasExactSynonym "tracheal stenosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_20_048_01.pdf
rdfs:label "気管狭窄" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_20_048/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000190
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002568
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "140" xsd:string
dcterms:identifier "3000193" xsd:string
hasExactSynonym "pharyngeal stenosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_20_048_01.pdf
rdfs:label "咽頭狭窄" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_20_048/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000190
http://nanbyodata.jp/ontology/nanbyo#3000194 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "140" xsd:string
dcterms:identifier "3000194" xsd:string
hasExactSynonym "tracheomalacia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_20_048_01.pdf
rdfs:label "気管軟化症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_20_048/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000190
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019804
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "140" xsd:string
dcterms:identifier "3000195" xsd:string
hasExactSynonym "bronchial stenosis and bronchomalacia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_02_20_048_01.pdf
rdfs:label "気管支狭窄症・軟化症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/02_20_048/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000190
http://nanbyodata.jp/ontology/nanbyo#3000196 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "141" xsd:string
dcterms:identifier "3000196" xsd:string
hasExactSynonym "airway obstruction and stenosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_03_01_001_01.pdf
rdfs:label "気管支喘息" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/03_01_001/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000197 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "142" xsd:string
dcterms:identifier "3000197" xsd:string
hasExactSynonym "CCHS" @en
hasExactSynonym "congenital central hypoventilation syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_03_02_002_01.pdf
rdfs:label "先天性中枢性低換気症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/03_02_002/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008852
http://nanbyodata.jp/ontology/nanbyo#3000198 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "143" xsd:string
dcterms:identifier "3000198" xsd:string
hasExactSynonym "idiopathic interstitial pneumonia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_03_03_003_01.pdf
rdfs:label "特発性間質性肺炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/03_03_003/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002429
http://nanbyodata.jp/ontology/nanbyo#3000199 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "144" xsd:string
dcterms:identifier "3000199" xsd:string
hasExactSynonym "Congenital alveolar proteinosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_03_04_004_01.pdf
rdfs:label "先天性肺胞蛋白症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/03_04_004/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000200 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "144" xsd:string
dcterms:identifier "3000200" xsd:string
hasExactSynonym "HILD" @en
hasExactSynonym "Hereditary interstitial lung disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_03_04_004_01.pdf
rdfs:label "遺伝性間質性肺疾患" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/03_04_004/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000199
http://nanbyodata.jp/ontology/nanbyo#3000201 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "145" xsd:string
dcterms:identifier "3000201" xsd:string
hasExactSynonym "PAM" @en
hasExactSynonym "pulmonary alveolar microlithiasis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_03_04_005_01.pdf
rdfs:label "肺胞微石症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/03_04_005/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009928
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018959
http://nanbyodata.jp/ontology/nanbyo#3000202 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "146" xsd:string
dcterms:identifier "3000202" xsd:string
hasExactSynonym "primary ciliary dyskinesia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_03_04_006_01.pdf
rdfs:label "線毛機能不全症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/03_04_006/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016575
http://nanbyodata.jp/ontology/nanbyo#3000203 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "146" xsd:string
dcterms:identifier "3000203" xsd:string
hasExactSynonym "Kartagener syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_03_04_006_01.pdf
rdfs:label "カルタゲナー症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/03_04_006/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000202
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009484
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016575
http://nanbyodata.jp/ontology/nanbyo#3000204 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "147" xsd:string
dcterms:identifier "3000204" xsd:string
hasExactSynonym "CF" @en
hasExactSynonym "cystic fibrosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_03_05_007_01.pdf
rdfs:label "嚢胞性線維症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/03_05_007/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009061
http://nanbyodata.jp/ontology/nanbyo#3000205 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "148" xsd:string
dcterms:identifier "3000205" xsd:string
hasExactSynonym "bronchiectasis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_03_06_008_01.pdf
rdfs:label "気管支拡張症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/03_06_008/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0004822
http://nanbyodata.jp/ontology/nanbyo#3000206 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "149" xsd:string
dcterms:identifier "3000206" xsd:string
hasExactSynonym "idiopathic pulmonary hemosiderosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_03_07_009_01.pdf
rdfs:label "特発性肺ヘモジデローシス" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/03_07_009/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008346
http://nanbyodata.jp/ontology/nanbyo#3000207 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "150" xsd:string
dcterms:identifier "3000207" xsd:string
hasExactSynonym "CLD" @en
hasExactSynonym "chronic lung disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_03_08_010_01.pdf
rdfs:label "慢性肺疾患" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/03_08_010/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008964
http://nanbyodata.jp/ontology/nanbyo#3000208 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "151" xsd:string
dcterms:identifier "3000208" xsd:string
hasExactSynonym "bronchiolitis obliterans" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_03_09_011_01.pdf
rdfs:label "閉塞性細気管支炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/03_09_011/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015265
http://nanbyodata.jp/ontology/nanbyo#3000209 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "152" xsd:string
dcterms:identifier "3000209" xsd:string
hasExactSynonym "congenital diaphragmatic hernia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_03_10_012_01.pdf
rdfs:label "先天性横隔膜ヘルニア" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/03_10_012/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005711
http://nanbyodata.jp/ontology/nanbyo#3000210 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "153" xsd:string
dcterms:identifier "3000210" xsd:string
hasExactSynonym "Congenital cystic lung disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_03_11_013_01.pdf
rdfs:label "先天性嚢胞性肺疾患" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/03_11_013/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000211 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "154" xsd:string
dcterms:identifier "3000211" xsd:string
hasExactSynonym "Sick sinus syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_03_12_014_01.pdf
rdfs:label "洞不全症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/03_12_014/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0001823
http://nanbyodata.jp/ontology/nanbyo#3000212 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "155" xsd:string
dcterms:identifier "3000212" xsd:string
hasExactSynonym "Mobitz type II second degree atrioventricular block" @en
hasExactSynonym "Mobitz2型ブロック " @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_01_001_01.pdf
rdfs:label "モビッツ2型ブロック" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_01_001/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000213 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "156" xsd:string
dcterms:identifier "3000213" xsd:string
hasExactSynonym "Complete atrio-ventricular block" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_02_002_01.pdf
rdfs:label "完全房室ブロック" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_02_002/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000468
http://nanbyodata.jp/ontology/nanbyo#3000214 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "157" xsd:string
dcterms:identifier "3000214" xsd:string
hasExactSynonym "Bundle branch block" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_03_003_01.pdf
rdfs:label "脚ブロック" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_03_003/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007240
http://nanbyodata.jp/ontology/nanbyo#3000215 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "158" xsd:string
dcterms:identifier "3000215" xsd:string
hasExactSynonym "Polymorphic ventricular premature beat" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_04_004_01.pdf
rdfs:label "多源性心室期外収縮" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_04_004/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000216 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "159" xsd:string
dcterms:identifier "3000216" xsd:string
hasExactSynonym "Supraventricular tachycardia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_05_005_01.pdf
rdfs:label "上室頻拍" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_05_005/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000217 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "159" xsd:string
dcterms:identifier "3000217" xsd:string
hasExactSynonym "WPW syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_05_005_01.pdf
rdfs:label "WPW症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_05_005/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000216
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008685
http://nanbyodata.jp/ontology/nanbyo#3000218 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "160" xsd:string
dcterms:identifier "3000218" xsd:string
hasExactSynonym "Multiple atrial tachycardia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_06_006_01.pdf
rdfs:label "多源性心房頻拍" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_06_006/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000219 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "161" xsd:string
dcterms:identifier "3000219" xsd:string
hasExactSynonym "Supraventricular tachycardia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_06_007_01.pdf
rdfs:label "6及び7に掲げるもののほか、上室頻拍" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_06_007/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000220 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "162" xsd:string
dcterms:identifier "3000220" xsd:string
hasExactSynonym "Verapamil sensitive ventricular tachycardia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_06_008_01.pdf
rdfs:label "ベラパミル感受性心室頻拍" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_06_008/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000221 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "163" xsd:string
dcterms:identifier "3000221" xsd:string
hasExactSynonym "CPVT" @en
hasExactSynonym "Catecholaminergic polymorphic ventricular tachycardia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_07_009_01.pdf
rdfs:label "カテコラミン誘発多形性心室頻拍" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_07_009/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017990
http://nanbyodata.jp/ontology/nanbyo#3000222 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "164" xsd:string
dcterms:identifier "3000222" xsd:string
hasExactSynonym "Ventricular tachycardia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_07_010_01.pdf
rdfs:label "9及び10に掲げるもののほか、心室頻拍" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_07_010/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000223 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "164" xsd:string
dcterms:identifier "3000223" xsd:string
hasExactSynonym "adenosine sensitive VT" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_07_010_01.pdf
rdfs:label "アデノシン感受性心室頻拍" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_07_010/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000222
http://nanbyodata.jp/ontology/nanbyo#3000224 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "164" xsd:string
dcterms:identifier "3000224" xsd:string
hasExactSynonym "propranolol sensitive VT" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_07_010_01.pdf
rdfs:label "プロプラノロール感受性心室頻拍" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_07_010/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000222
http://nanbyodata.jp/ontology/nanbyo#3000225 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "166" xsd:string
dcterms:identifier "3000225" xsd:string
hasExactSynonym "Atrial flutter" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_07_011_01.pdf
rdfs:label "心房粗動" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_07_011/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005310
http://nanbyodata.jp/ontology/nanbyo#3000226 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "167" xsd:string
dcterms:identifier "3000226" xsd:string
hasExactSynonym "Atrial fibrillation" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_08_012_01.pdf
rdfs:label "心房細動" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_08_012/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0004981
http://nanbyodata.jp/ontology/nanbyo#3000227 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "168" xsd:string
dcterms:identifier "3000227" xsd:string
hasExactSynonym "Ventricular fibrillation" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_09_013_01.pdf
rdfs:label "心室細動" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_09_013/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000228 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "169" xsd:string
dcterms:identifier "3000228" xsd:string
hasExactSynonym "LQTS" @en
hasExactSynonym "Long qt syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_10_014_01.pdf
rdfs:label "QT延長症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_10_014/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002442
http://nanbyodata.jp/ontology/nanbyo#3000229 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "170" xsd:string
dcterms:identifier "3000229" xsd:string
hasExactSynonym "Hypertrophic cardiomyopathy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_11_015_01.pdf
rdfs:label "肥大型心筋症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_11_015/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005045
http://nanbyodata.jp/ontology/nanbyo#3000230 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "171" xsd:string
dcterms:identifier "3000230" xsd:string
hasExactSynonym "Arrhythmogenic right ventricular cardiomyopathy or dysplasia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_12_016_01.pdf
rdfs:label "不整脈源性右室心筋症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_12_016/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000231 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "172" xsd:string
dcterms:identifier "3000231" xsd:string
hasExactSynonym "Non-compaction of the ventricle" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_13_017_01.pdf
rdfs:label "心筋緻密化障害" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_13_017/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000232 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "173" xsd:string
dcterms:identifier "3000232" xsd:string
hasExactSynonym "Dilated cardiomyopathy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_14_018_01.pdf
rdfs:label "拡張型心筋症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_14_018/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005021
http://nanbyodata.jp/ontology/nanbyo#3000233 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "174" xsd:string
dcterms:identifier "3000233" xsd:string
hasExactSynonym "Restricted cardiomyopathy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_15_019_01.pdf
rdfs:label "拘束型心筋症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_15_019/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000234 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "175" xsd:string
dcterms:identifier "3000234" xsd:string
hasExactSynonym "Aneurysm of ventricle" @en
hasExactSynonym "diverticulum of ventricle" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_16_020_01.pdf
rdfs:label "心室瘤" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_16_020/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000235 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "176" xsd:string
dcterms:identifier "3000235" xsd:string
hasExactSynonym "Endocardial fibroelastosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_17_021_01.pdf
rdfs:label "心内膜線維弾性症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_17_021/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009169
http://nanbyodata.jp/ontology/nanbyo#3000236 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "177" xsd:string
dcterms:identifier "3000236" xsd:string
hasExactSynonym "Cardiac tumor" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_18_022_01.pdf
rdfs:label "心臓腫瘍" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_18_022/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0001340
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0021209
http://nanbyodata.jp/ontology/nanbyo#3000237 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "178" xsd:string
dcterms:identifier "3000237" xsd:string
hasExactSynonym "Chronic myocarditis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_19_023_01.pdf
rdfs:label "慢性心筋炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_19_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000238 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "179" xsd:string
dcterms:identifier "3000238" xsd:string
hasExactSynonym "Chronic pericarditis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_20_024_01.pdf
rdfs:label "慢性心膜炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_20_024/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000239 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "180" xsd:string
dcterms:identifier "3000239" xsd:string
hasExactSynonym "Constrictive pericarditis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_21_025_01.pdf
rdfs:label "収縮性心膜炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_21_025/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0006711
http://nanbyodata.jp/ontology/nanbyo#3000240 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "181" xsd:string
dcterms:identifier "3000240" xsd:string
hasExactSynonym "Congenital defect of the pericardium" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_22_026_01.pdf
rdfs:label "先天性心膜欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_22_026/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000241 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "182" xsd:string
dcterms:identifier "3000241" xsd:string
hasExactSynonym "Idiopathic Rupture of Chordae Tendineae of the Mitral Valve in Infants" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_23_027_01.pdf
rdfs:label "乳児特発性僧帽弁腱索断裂" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_23_027/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000242 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "183" xsd:string
dcterms:identifier "3000242" xsd:string
hasExactSynonym "Abnormal origin of left coronary artery from pulmonary artery" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_24_028_01.pdf
rdfs:label "左冠動脈肺動脈起始症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_24_028/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000243 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "184" xsd:string
dcterms:identifier "3000243" xsd:string
hasExactSynonym "Abnormal origin of right coronary artery from pulmonary artery" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_25_029_01.pdf
rdfs:label "右冠動脈肺動脈起始症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_25_029/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000244 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "185" xsd:string
dcterms:identifier "3000244" xsd:string
hasExactSynonym "Other anomalous origin of coronary artery" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_25_030_01.pdf
rdfs:label "29及び30に掲げるもののほか、冠動脈起始異常" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_25_030/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000245 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "186" xsd:string
dcterms:identifier "3000245" xsd:string
hasExactSynonym "Coronary aneurysms complicated with kawasaki disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_25_031_01.pdf
rdfs:label "川崎病性冠動脈瘤" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_25_031/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000246 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "187" xsd:string
dcterms:identifier "3000246" xsd:string
hasExactSynonym "Stenosis or atresia of coronary artery" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_26_032_01.pdf
rdfs:label "冠動脈狭窄症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_26_032/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000247 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "188" xsd:string
dcterms:identifier "3000247" xsd:string
hasExactSynonym "Angina pectoris" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_27_033_01.pdf
rdfs:label "狭心症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_27_033/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000248 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "189" xsd:string
dcterms:identifier "3000248" xsd:string
hasExactSynonym "Myocardial infarction" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_28_034_01.pdf
rdfs:label "心筋梗塞" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_28_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005068
http://nanbyodata.jp/ontology/nanbyo#3000249 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "190" xsd:string
dcterms:identifier "3000249" xsd:string
hasExactSynonym "Hypoplastic left heart syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_28_035_01.pdf
rdfs:label "左心低形成症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_28_035/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0004933
http://nanbyodata.jp/ontology/nanbyo#3000250 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "191" xsd:string
dcterms:identifier "3000250" xsd:string
hasExactSynonym "Single ventricle" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_29_036_01.pdf
rdfs:label "単心室症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_29_036/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000251 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "192" xsd:string
dcterms:identifier "3000251" xsd:string
hasExactSynonym "Tricuspid atresia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_30_037_01.pdf
rdfs:label "三尖弁閉鎖症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_30_037/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011514
http://nanbyodata.jp/ontology/nanbyo#3000252 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "193" xsd:string
dcterms:identifier "3000252" xsd:string
hasExactSynonym "Pulmonary atresia with ventricular septal defect" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_31_038_01.pdf
rdfs:label "心室中隔欠損を伴う肺動脈閉鎖症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_31_038/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008343
http://nanbyodata.jp/ontology/nanbyo#3000253 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "194" xsd:string
dcterms:identifier "3000253" xsd:string
hasExactSynonym "Pulmonary atresia with intact ventricular septum" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_32_039_01.pdf
rdfs:label "心室中隔欠損を伴わない肺動脈閉鎖症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_32_039/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009931
http://nanbyodata.jp/ontology/nanbyo#3000254 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "195" xsd:string
dcterms:identifier "3000254" xsd:string
hasExactSynonym "Fallot四徴症" @ja
hasExactSynonym "Tetralogy of Fallot" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_32_040_01.pdf
rdfs:label "ファロー四徴症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_32_040/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008542
http://nanbyodata.jp/ontology/nanbyo#3000255 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "196" xsd:string
dcterms:identifier "3000255" xsd:string
hasExactSynonym "Taussig-Bing anomaly" @en
hasExactSynonym "Taussig-Bing奇形" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_33_041_01.pdf
rdfs:label "タウジッヒ・ビング奇形" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_33_041/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000256 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "197" xsd:string
dcterms:identifier "3000256" xsd:string
hasExactSynonym "Double-outlet right ventricle" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_34_042_01.pdf
rdfs:label "両大血管右室起始症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_34_042/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016581
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018089
http://nanbyodata.jp/ontology/nanbyo#3000257 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "198" xsd:string
dcterms:identifier "3000257" xsd:string
hasExactSynonym "Double-outlet left ventricle" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_34_043_01.pdf
rdfs:label "両大血管左室起始症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_34_043/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018090
http://nanbyodata.jp/ontology/nanbyo#3000258 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "199" xsd:string
dcterms:identifier "3000258" xsd:string
hasExactSynonym "Complete transposition of the great arteries" @en
hasExactSynonym "complete tga" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_35_044_01.pdf
rdfs:label "完全大血管転位症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_35_044/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000259 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "200" xsd:string
dcterms:identifier "3000259" xsd:string
hasExactSynonym "Congenitally corrected transposition of the great arteries" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_36_045_01.pdf
rdfs:label "先天性修正大血管転位症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_36_045/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016301
http://nanbyodata.jp/ontology/nanbyo#3000260 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "201" xsd:string
dcterms:identifier "3000260" xsd:string
hasExactSynonym "Ebstein’s anomaly" @en
hasExactSynonym "Ebstein病" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_37_046_01.pdf
rdfs:label "エプスタイン病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_37_046/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000261 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "202" xsd:string
dcterms:identifier "3000261" xsd:string
hasExactSynonym "Truncus arteriosus communis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_38_047_01.pdf
rdfs:label "総動脈幹遺残症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_38_047/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016581
http://nanbyodata.jp/ontology/nanbyo#3000262 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "203" xsd:string
dcterms:identifier "3000262" xsd:string
hasExactSynonym "Aorto-pulmonary window" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_39_048_01.pdf
rdfs:label "大動脈肺動脈窓" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_39_048/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0021902
http://nanbyodata.jp/ontology/nanbyo#3000263 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "204" xsd:string
dcterms:identifier "3000263" xsd:string
hasExactSynonym "Cor triatriatum" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_40_049_01.pdf
rdfs:label "三心房心" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_40_049/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015450
http://nanbyodata.jp/ontology/nanbyo#3000264 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "205" xsd:string
dcterms:identifier "3000264" xsd:string
hasExactSynonym "Patent ductus arteriosus" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_41_050_01.pdf
rdfs:label "動脈管開存症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_41_050/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011827
http://nanbyodata.jp/ontology/nanbyo#3000265 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "206" xsd:string
dcterms:identifier "3000265" xsd:string
hasExactSynonym "Common atrium" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_42_051_01.pdf
rdfs:label "単心房症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_42_051/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000266 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "207" xsd:string
dcterms:identifier "3000266" xsd:string
hasExactSynonym "Atrial septal defect, ostium secundum type" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_43_052_01.pdf
rdfs:label "二次孔型心房中隔欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_43_052/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020434
http://nanbyodata.jp/ontology/nanbyo#3000267 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "208" xsd:string
dcterms:identifier "3000267" xsd:string
hasExactSynonym "Atrial septal defect, sinus venosus type" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_43_053_01.pdf
rdfs:label "静脈洞型心房中隔欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_43_053/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020436
http://nanbyodata.jp/ontology/nanbyo#3000268 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "209" xsd:string
dcterms:identifier "3000268" xsd:string
hasExactSynonym "Incomplete atrioventricular septal defect" @en
hasExactSynonym "不完全型心内膜床欠損症" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_43_054_01.pdf
rdfs:label "不完全型房室中隔欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_43_054/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000269 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "210" xsd:string
dcterms:identifier "3000269" xsd:string
hasExactSynonym "Complete atrioventricular septal defect" @en
hasExactSynonym "完全型心内膜床欠損症" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_43_055_01.pdf
rdfs:label "完全型房室中隔欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_43_055/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015273
http://nanbyodata.jp/ontology/nanbyo#3000270 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "211" xsd:string
dcterms:identifier "3000270" xsd:string
hasExactSynonym "Ventricular septal defect" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_44_056_01.pdf
rdfs:label "心室中隔欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_44_056/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000271 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "212" xsd:string
dcterms:identifier "3000271" xsd:string
hasExactSynonym "Total anomalous pulmonary venous connection" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_45_057_01.pdf
rdfs:label "総肺静脈還流異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_45_057/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000272 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "213" xsd:string
dcterms:identifier "3000272" xsd:string
hasExactSynonym "Partial anomalous pulmonary venous connection" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_46_058_01.pdf
rdfs:label "部分肺静脈還流異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_46_058/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000273 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "214" xsd:string
dcterms:identifier "3000273" xsd:string
hasExactSynonym "Pulmonary venous obstruction" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_46_059_01.pdf
rdfs:label "肺静脈狭窄症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_46_059/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000274 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "215" xsd:string
dcterms:identifier "3000274" xsd:string
hasExactSynonym "Left ventricular-right atrial communication" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_47_060_01.pdf
rdfs:label "左室右房交通症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_47_060/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020428
http://nanbyodata.jp/ontology/nanbyo#3000275 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "216" xsd:string
dcterms:identifier "3000275" xsd:string
hasExactSynonym "Double-chambered right ventricle" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_48_061_01.pdf
rdfs:label "右室二腔症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_48_061/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "217" xsd:string
dcterms:identifier "3000276" xsd:string
hasExactSynonym "Subvalvular pulmonary stenosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_49_062_01.pdf
rdfs:label "肺動脈弁下狭窄症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_49_062/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "218" xsd:string
dcterms:identifier "3000277" xsd:string
hasExactSynonym "Subvalvular aortic stenosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_50_063_01.pdf
rdfs:label "大動脈弁下狭窄症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_50_063/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0006987
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "219" xsd:string
dcterms:identifier "3000278" xsd:string
hasExactSynonym "Supravalvular pulmonary stenosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_51_064_01.pdf
rdfs:label "肺動脈弁上狭窄症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_51_064/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017870
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "220" xsd:string
dcterms:identifier "3000279" xsd:string
hasExactSynonym "Peripheral pulmonary stenosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_52_065_01.pdf
rdfs:label "末梢性肺動脈狭窄症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_52_065/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020420y
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "221" xsd:string
dcterms:identifier "3000280" xsd:string
hasExactSynonym "Absent pulmonary valve" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_52_066_01.pdf
rdfs:label "肺動脈弁欠損" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_52_066/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020064
http://nanbyodata.jp/ontology/nanbyo#3000281 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "222" xsd:string
dcterms:identifier "3000281" xsd:string
hasExactSynonym "Origin of pulmonary artery from ascending aorta" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_53_067_01.pdf
rdfs:label "肺動脈上行大動脈起始症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_53_067/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000282 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "223" xsd:string
dcterms:identifier "3000282" xsd:string
hasExactSynonym "Unilateral absence of a pulmonary artery" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_54_068_01.pdf
rdfs:label "一側肺動脈欠損" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_54_068/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000283 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "224" xsd:string
dcterms:identifier "3000283" xsd:string
hasExactSynonym "Coarctation of the aorta" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_55_069_01.pdf
rdfs:label "大動脈縮窄症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_55_069/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007345
http://nanbyodata.jp/ontology/nanbyo#3000284 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "225" xsd:string
dcterms:identifier "3000284" xsd:string
hasExactSynonym "Coarctation complex" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_56_070_01.pdf
rdfs:label "大動脈縮窄複合" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_56_070/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000285 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "226" xsd:string
dcterms:identifier "3000285" xsd:string
hasExactSynonym "Supravalvular aortic stenosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_56_071_01.pdf
rdfs:label "大動脈弁上狭窄症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_56_071/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008504
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "227" xsd:string
dcterms:identifier "3000286" xsd:string
hasExactSynonym "Williams syndrome" @en
hasExactSynonym "Williams症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_56_072_01.pdf
rdfs:label "ウィリアムズ症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_56_072/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008678
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "228" xsd:string
dcterms:identifier "3000287" xsd:string
hasExactSynonym "Coarctation of the aorta" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_56_073_01.pdf
rdfs:label "70から73までに掲げるもののほか、大動脈狭窄症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_56_073/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007345
http://nanbyodata.jp/ontology/nanbyo#3000288 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "229" xsd:string
dcterms:identifier "3000288" xsd:string
hasExactSynonym "Interruption of aortic arch complex" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_56_074_01.pdf
rdfs:label "大動脈弓離断複合" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_56_074/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000289 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "230" xsd:string
dcterms:identifier "3000289" xsd:string
hasExactSynonym "Aortic arch occlusive disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_57_075_01.pdf
rdfs:label "大動脈弓閉塞症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_57_075/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000290 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "231" xsd:string
dcterms:identifier "3000290" xsd:string
hasExactSynonym "Double aortic arch disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_57_076_01.pdf
rdfs:label "重複大動脈弓症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_57_076/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000291 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "232" xsd:string
dcterms:identifier "3000291" xsd:string
hasExactSynonym "Vascular sling" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_58_077_01.pdf
rdfs:label "左肺動脈右肺動脈起始症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_58_077/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000292 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "233" xsd:string
dcterms:identifier "3000292" xsd:string
hasExactSynonym "Vascular ring" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_58_078_01.pdf
rdfs:label "77及び78に掲げるもののほか、血管輪" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_58_078/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000293 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "234" xsd:string
dcterms:identifier "3000293" xsd:string
hasExactSynonym "Aneurysm of sinus valsalva" @en
hasExactSynonym "Valsalva洞動脈瘤" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_58_079_01.pdf
rdfs:label "バルサルバ洞動脈瘤" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_58_079/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000294 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "235" xsd:string
dcterms:identifier "3000294" xsd:string
hasExactSynonym "Aortic aneurysm" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_59_080_01.pdf
rdfs:label "大動脈瘤" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_59_080/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005160
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "236" xsd:string
dcterms:identifier "3000295" xsd:string
hasExactSynonym "Pulmonary arteriovenous fistulae" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_59_081_01.pdf
rdfs:label "肺動静脈瘻" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_59_081/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000296 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "237" xsd:string
dcterms:identifier "3000296" xsd:string
hasExactSynonym "Coronary artery fistula" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_60_082_01.pdf
rdfs:label "冠動脈瘻" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_60_082/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000297 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "238" xsd:string
dcterms:identifier "3000297" xsd:string
hasExactSynonym "Arteriovenous fistulae" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_60_083_01.pdf
rdfs:label "82及び83に掲げるもののほか、動静脈瘻" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_60_083/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000298 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "239" xsd:string
dcterms:identifier "3000298" xsd:string
hasExactSynonym "Idiopathic pulmonary arterial hypertension" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_60_084_01.pdf
rdfs:label "肺動脈性肺高血圧症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_60_084/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000299 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "240" xsd:string
dcterms:identifier "3000299" xsd:string
hasExactSynonym "Chronic cor pulmonale" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_61_085_01.pdf
rdfs:label "慢性肺性心" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_61_085/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000300 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "241" xsd:string
dcterms:identifier "3000300" xsd:string
hasExactSynonym "Tricuspid valve stenosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_62_086_01.pdf
rdfs:label "三尖弁狭窄症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_62_086/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005997
http://nanbyodata.jp/ontology/nanbyo#3000301 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "242" xsd:string
dcterms:identifier "3000301" xsd:string
hasExactSynonym "Tricuspid valve regurgitation" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_63_087_01.pdf
rdfs:label "三尖弁閉鎖不全症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_63_087/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002870
http://nanbyodata.jp/ontology/nanbyo#3000302 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "243" xsd:string
dcterms:identifier "3000302" xsd:string
hasExactSynonym "Mitral valve stenosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_63_088_01.pdf
rdfs:label "僧帽弁狭窄症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_63_088/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005852
http://nanbyodata.jp/ontology/nanbyo#3000303 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "244" xsd:string
dcterms:identifier "3000303" xsd:string
hasExactSynonym "Mitral valve stenosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_63_089_01.pdf
rdfs:label "僧帽弁閉鎖不全症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_63_089/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005852
http://nanbyodata.jp/ontology/nanbyo#3000304 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "245" xsd:string
dcterms:identifier "3000304" xsd:string
hasExactSynonym "Pulmonary valve stenosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_63_090_01.pdf
rdfs:label "肺動脈弁狭窄症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_63_090/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0006936
http://nanbyodata.jp/ontology/nanbyo#3000305 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "246" xsd:string
dcterms:identifier "3000305" xsd:string
hasExactSynonym "Pulmonary valve regurgitation" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_63_091_01.pdf
rdfs:label "肺動脈弁閉鎖不全症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_63_091/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0001927
http://nanbyodata.jp/ontology/nanbyo#3000306 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "247" xsd:string
dcterms:identifier "3000306" xsd:string
hasExactSynonym "Aortic valve stenosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_63_092_01.pdf
rdfs:label "大動脈弁狭窄症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_63_092/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0004978
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0013902
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0042981
http://nanbyodata.jp/ontology/nanbyo#3000307 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "248" xsd:string
dcterms:identifier "3000307" xsd:string
hasExactSynonym "Aortic valve regurgitation" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_63_093_01.pdf
rdfs:label "大動脈弁閉鎖不全症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_63_093/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000308 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "249" xsd:string
dcterms:identifier "3000308" xsd:string
hasExactSynonym "Supramitral ring" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_63_094_01.pdf
rdfs:label "僧帽弁弁上輪" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_63_094/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000309 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "250" xsd:string
dcterms:identifier "3000309" xsd:string
hasExactSynonym "Asplenia syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_04_64_095_01.pdf
rdfs:label "無脾症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/04_64_095/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008832
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hasExactSynonym "Polysplenia syndrome" @en
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hasExactSynonym "Fontan術後症候群" @ja
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hasExactSynonym "Congenital hypopituitarism" @en
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hasExactSynonym "Acquired hypopituitarism" @en
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hasExactSynonym "Pituitary gigantism" @en
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hasExactSynonym "Acromegaly" @en
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hasExactSynonym "congenital growth hormone deficiency" @en
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hasExactSynonym "Idiopathic growth hormone deficiency" @en
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hasExactSynonym "IGF1 insensitivity" @en
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hasExactSynonym "Growth hormone insensitivity" @en
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has_notification_number "261" xsd:string
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hasExactSynonym "Hyperprolactinaemia" @en
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rdfs:label "高プロラクチン血症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0023209
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0024305
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hasExactSynonym "Syndrome of inappropriate secretion of antidiuretic hormone" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_05_008_01.pdf
rdfs:label "抗利尿ホルモン不適切分泌症候群" @ja
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has_notification_number "263" xsd:string
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hasExactSynonym "Central diabetes insipidus" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_06_009_01.pdf
rdfs:label "中枢性尿崩症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015790
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has_notification_number "264" xsd:string
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hasExactSynonym "" @en
hasExactSynonym "本態性高ナトリウム血症" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_07_010_01.pdf
rdfs:label "口渇中枢障害を伴う高ナトリウム血症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
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has_notification_number "265" xsd:string
dcterms:identifier "3000326" xsd:string
hasExactSynonym "Nephrogenic diabetes insipidus" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_08_011_01.pdf
rdfs:label "腎性尿崩症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016383
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "266" xsd:string
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hasExactSynonym "Cerebral salt wasting syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_08_012_01.pdf
rdfs:label "中枢性塩喪失症候群" @ja
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "267" xsd:string
dcterms:identifier "3000328" xsd:string
hasExactSynonym "Basedow disease" @en
hasExactSynonym "Basedow病 " @ja
hasExactSynonym "Graves' disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_08_013_01.pdf
rdfs:label "バセドウ病" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005364
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has_notification_number "268" xsd:string
dcterms:identifier "3000329" xsd:string
hasExactSynonym "Hyperthyroidism" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_09_014_01.pdf
rdfs:label "甲状腺機能亢進症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0004425
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has_notification_number "269" xsd:string
dcterms:identifier "3000330" xsd:string
hasExactSynonym "Ectoic thyroid" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_10_015_01.pdf
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dcterms:identifier "3000331" xsd:string
hasExactSynonym "Thyroid agenesis" @en
hasExactSynonym "athyreosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_10_016_01.pdf
rdfs:label "無甲状腺症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0024264
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has_notification_number "271" xsd:string
dcterms:identifier "3000332" xsd:string
hasExactSynonym "Thyroid-stimulating hormone deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_11_017_01.pdf
rdfs:label "甲状腺刺激ホルモン分泌低下症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_11_017/
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016410
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has_notification_number "272" xsd:string
dcterms:identifier "3000333" xsd:string
hasExactSynonym "CH" @en
hasExactSynonym "Congenital hypothyroidism" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_11_018_01.pdf
rdfs:label "17から19までに掲げるもののほか、先天性甲状腺機能低下症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018612
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has_notification_number "273" xsd:string
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hasExactSynonym "Hashimoto disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_11_019_01.pdf
rdfs:label "橋本病" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007699
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has_notification_number "274" xsd:string
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hasExactSynonym "Atrophic thyroiditis" @en
hasExactSynonym "primary myxedema" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_11_020_01.pdf
rdfs:label "萎縮性甲状腺炎" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005624
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has_notification_number "275" xsd:string
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hasExactSynonym "Other acquired hypothyroidism" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_11_021_01.pdf
rdfs:label "21及び22に掲げるもののほか、後天性甲状腺機能低下症" @ja
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hasExactSynonym "radiation-induced hypothyroidism" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_11_021_01.pdf
rdfs:label "放射線性甲状腺機能低下症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_11_021/
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hasExactSynonym "drug-induced hypothyroidism" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_11_021_01.pdf
rdfs:label "薬剤性甲状腺機能低下症" @ja
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dcterms:identifier "3000339" xsd:string
hasExactSynonym "central hypothyroidism" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_11_021_01.pdf
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016410
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has_notification_number "276" xsd:string
dcterms:identifier "3000340" xsd:string
hasExactSynonym "Resistance to thyroid hormone" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_11_022_01.pdf
rdfs:label "甲状腺ホルモン不応症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_11_022/
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http://nanbyodata.jp/ontology/nanbyo#3000341 (rdf:type owl:Class )
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has_notification_number "277" xsd:string
dcterms:identifier "3000341" xsd:string
hasExactSynonym "Adenomatous goitre" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_11_023_01.pdf
rdfs:label "腺腫様甲状腺腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_11_023/
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has_notification_number "278" xsd:string
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hasExactSynonym "Hyperparathyroidism" @en
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hasExactSynonym "Parathyroid gland defect" @en
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hasExactSynonym "Hypoparathyroidism" @en
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has_notification_number "281" xsd:string
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hasExactSynonym "Autoimmune polyendocrinopathy type 1" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_15_027_01.pdf
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hasExactSynonym "Autoimmune polyendocrinopathy type 2" @en
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has_notification_number "283" xsd:string
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hasExactSynonym "Pseudopseudohypoparathyroidism" @en
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hasExactSynonym "Pseudohypoparathyroidism" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_16_030_01.pdf
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "285" xsd:string
dcterms:identifier "3000349" xsd:string
hasExactSynonym "Cushing disease" @en
hasExactSynonym "Cushing病" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_17_031_01.pdf
rdfs:label "クッシング病" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018912
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has_notification_number "286" xsd:string
dcterms:identifier "3000350" xsd:string
hasExactSynonym "ACTH産生症候群" @ja
hasExactSynonym "Ectopic ACTH syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_17_032_01.pdf
rdfs:label "異所性副腎皮質刺激ホルモン産生症候群" @ja
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rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0043472
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has_notification_number "287" xsd:string
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hasExactSynonym "Adrenal adenoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_18_033_01.pdf
rdfs:label "副腎腺腫" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0003924
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has_notification_number "288" xsd:string
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hasExactSynonym "ACTH-independent macronodular adrenal hyperplasia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_18_034_01.pdf
rdfs:label "副腎皮質結節性過形成" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020735
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has_notification_number "289" xsd:string
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hasExactSynonym "Cushing syndrome" @en
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rdfs:label "33から36までに掲げるもののほか、クッシング(Cushing)症候群" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009050
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018912
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has_notification_number "290" xsd:string
dcterms:identifier "3000354" xsd:string
hasExactSynonym "ACTH単独欠損症" @ja
hasExactSynonym "Isolated ACTH deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_18_036_01.pdf
rdfs:label "副腎皮質刺激ホルモン単独欠損症" @ja
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rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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has_notification_number "291" xsd:string
dcterms:identifier "3000355" xsd:string
hasExactSynonym "ACTH unresponsiveness" @en
hasExactSynonym "ACTH不応症" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_18_037_01.pdf
rdfs:label "副腎皮質刺激ホルモン不応症" @ja
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rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "292" xsd:string
dcterms:identifier "3000356" xsd:string
hasExactSynonym "Congenital adrenal hypoplasia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_19_038_01.pdf
rdfs:label "先天性副腎低形成症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010264
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016241
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has_notification_number "293" xsd:string
dcterms:identifier "3000357" xsd:string
hasExactSynonym "Glucocorticoid resistance" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_19_039_01.pdf
rdfs:label "グルココルチコイド抵抗症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_19_039/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0014421
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "294" xsd:string
dcterms:identifier "3000358" xsd:string
hasExactSynonym "Addison disease" @en
hasExactSynonym "Other chronic adrenal insufficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_19_040_01.pdf
rdfs:label "38から41までに掲げるもののほか、慢性副腎皮質機能低下症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_19_040/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009410
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015129
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "294" xsd:string
dcterms:identifier "3000359" xsd:string
hasExactSynonym "Addison disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_19_040_01.pdf
rdfs:label "アジソン病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_19_040/
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009410
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015129
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "295" xsd:string
dcterms:identifier "3000360" xsd:string
hasExactSynonym "Aldosteronism" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_19_041_01.pdf
rdfs:label "アルドステロン症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_19_041/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "296" xsd:string
dcterms:identifier "3000361" xsd:string
hasExactSynonym "AME syndrome" @en
hasExactSynonym "AME症候群" @ja
hasExactSynonym "Apparent mineralocorticoid excess syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_19_042_01.pdf
rdfs:label "見かけの鉱質コルチコイド過剰症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_19_042/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0006657
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009025
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "297" xsd:string
dcterms:identifier "3000362" xsd:string
hasExactSynonym "Liddle syndrome" @en
hasExactSynonym "Liddle症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_20_043_01.pdf
rdfs:label "リドル症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_20_043/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008323
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020607
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "298" xsd:string
dcterms:identifier "3000363" xsd:string
hasExactSynonym "" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_21_044_01.pdf
rdfs:label "低レニン性低アルドステロン症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_21_044/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
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has_notification_number "299" xsd:string
dcterms:identifier "3000364" xsd:string
hasExactSynonym "Aldosterone synthase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_22_045_01.pdf
rdfs:label "アルドステロン合成酵素欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_22_045/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020489
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "300" xsd:string
dcterms:identifier "3000365" xsd:string
hasExactSynonym "" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_23_046_01.pdf
rdfs:label "46及び47に掲げるもののほか、低アルドステロン症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_23_046/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "301" xsd:string
dcterms:identifier "3000366" xsd:string
hasExactSynonym "Pseudohypoaldosteronism" @en
hasExactSynonym "Pseudohypoaldosteronism type1" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_23_047_01.pdf
rdfs:label "偽性低アルドステロン症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_23_047/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018638
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has_notification_number "301" xsd:string
dcterms:identifier "3000367" xsd:string
hasExactSynonym "" @en
hasExactSynonym "Pseudohypoaldosteronism type2" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_23_047_01.pdf
rdfs:label "偽性低アルドステロン症Ⅱ型" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_23_047/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000366
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "302" xsd:string
dcterms:identifier "3000368" xsd:string
hasExactSynonym "Congenital lipoid adrenal hyperplasia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_23_048_01.pdf
rdfs:label "リポイド副腎過形成症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_23_048/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018479
http://nanbyodata.jp/ontology/nanbyo#3000369 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "303" xsd:string
dcterms:identifier "3000369" xsd:string
hasExactSynonym "3 beta-hydroxysteroid dehydrogenase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_24_049_01.pdf
rdfs:label "3β-ヒドロキシステロイド脱水素酵素欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_24_049/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008727
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "304" xsd:string
dcterms:identifier "3000370" xsd:string
hasExactSynonym "11 beta-hydroxylase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_25_050_01.pdf
rdfs:label "11β-水酸化酵素欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_25_050/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008729
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "305" xsd:string
dcterms:identifier "3000371" xsd:string
hasExactSynonym "17 alpha-hydroxylase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_25_051_01.pdf
rdfs:label "17α-水酸化酵素欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_25_051/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008730
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "306" xsd:string
dcterms:identifier "3000372" xsd:string
hasExactSynonym "21-hydroxylase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_25_052_01.pdf
rdfs:label "21-水酸化酵素欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_25_052/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008728
http://nanbyodata.jp/ontology/nanbyo#3000373 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "307" xsd:string
dcterms:identifier "3000373" xsd:string
hasExactSynonym "P450 oxidoreductase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_25_053_01.pdf
rdfs:label "P450酸化還元酵素欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_25_053/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000374 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "308" xsd:string
dcterms:identifier "3000374" xsd:string
hasExactSynonym "" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_25_054_01.pdf
rdfs:label "50から55までに掲げるもののほか、先天性副腎過形成症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_25_054/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
http://nanbyodata.jp/ontology/nanbyo#3000375 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "309" xsd:string
dcterms:identifier "3000375" xsd:string
hasExactSynonym "" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_25_055_01.pdf
rdfs:label "ゴナドトロピン依存性思春期早発症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_25_055/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
http://nanbyodata.jp/ontology/nanbyo#3000376 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "310" xsd:string
dcterms:identifier "3000376" xsd:string
hasExactSynonym "" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_25_056_01.pdf
rdfs:label "ゴナドトロピン非依存性思春期早発症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_25_056/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
http://nanbyodata.jp/ontology/nanbyo#3000377 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "311" xsd:string
dcterms:identifier "3000377" xsd:string
hasExactSynonym "" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_26_057_01.pdf
rdfs:label "エストロゲン過剰症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_26_057/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
http://nanbyodata.jp/ontology/nanbyo#3000378 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "312" xsd:string
dcterms:identifier "3000378" xsd:string
hasExactSynonym "" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_26_058_01.pdf
rdfs:label "アンドロゲン過剰症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_26_058/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
http://nanbyodata.jp/ontology/nanbyo#3000379 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "313" xsd:string
dcterms:identifier "3000379" xsd:string
hasExactSynonym "Kallmann syndrome" @en
hasExactSynonym "Kallmann症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_27_059_01.pdf
rdfs:label "カルマン症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_27_059/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018800
http://nanbyodata.jp/ontology/nanbyo#3000380 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "314" xsd:string
dcterms:identifier "3000380" xsd:string
hasExactSynonym "" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_28_060_01.pdf
rdfs:label "低ゴナドトロピン性性腺機能低下症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_28_060/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
http://nanbyodata.jp/ontology/nanbyo#3000381 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "315" xsd:string
dcterms:identifier "3000381" xsd:string
hasExactSynonym "Testicular dysgenesis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_29_061_01.pdf
rdfs:label "精巣形成不全" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_29_061/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005437
http://nanbyodata.jp/ontology/nanbyo#3000382 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "316" xsd:string
dcterms:identifier "3000382" xsd:string
hasExactSynonym "Ovarian dysgenesis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_29_062_01.pdf
rdfs:label "卵巣形成不全" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_29_062/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009299
http://nanbyodata.jp/ontology/nanbyo#3000383 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "317" xsd:string
dcterms:identifier "3000383" xsd:string
hasExactSynonym "Hypergonadotropic hypogonadism of other etiologies" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_30_063_01.pdf
rdfs:label "63及び64に掲げるもののほか、高ゴナドトロピン性性腺機能低下症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_30_063/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000384 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "317" xsd:string
dcterms:identifier "3000384" xsd:string
hasExactSynonym "Klinefelter syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_30_063_01.pdf
rdfs:label "Klinefelter症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_30_063/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000383
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0006823
http://nanbyodata.jp/ontology/nanbyo#3000385 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "318" xsd:string
dcterms:identifier "3000385" xsd:string
hasExactSynonym "Ovotesticular dsd" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_30_064_01.pdf
rdfs:label "卵精巣性性分化疾患" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_30_064/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010766
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016281
http://nanbyodata.jp/ontology/nanbyo#3000386 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "319" xsd:string
dcterms:identifier "3000386" xsd:string
hasExactSynonym "Mixed gonadal dysgenesis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_30_065_01.pdf
rdfs:label "混合性性腺異形成症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_30_065/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0001969
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015779
http://nanbyodata.jp/ontology/nanbyo#3000387 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "320" xsd:string
dcterms:identifier "3000387" xsd:string
hasExactSynonym "5 alpha-reductase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_31_066_01.pdf
rdfs:label "5α-還元酵素欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_31_066/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009923
http://nanbyodata.jp/ontology/nanbyo#3000388 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "321" xsd:string
dcterms:identifier "3000388" xsd:string
hasExactSynonym "17 beta-hydroxysteroid dehydrogenase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_31_067_01.pdf
rdfs:label "17β-ヒドロキシステロイド脱水素酵素欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_31_067/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000389 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "322" xsd:string
dcterms:identifier "3000389" xsd:string
hasExactSynonym "Androgen insensitivity syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_31_068_01.pdf
rdfs:label "アンドロゲン不応症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_31_068/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019154
http://nanbyodata.jp/ontology/nanbyo#3000390 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "323" xsd:string
dcterms:identifier "3000390" xsd:string
hasExactSynonym "Other disorders of sex development of 46,XY" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_31_069_01.pdf
rdfs:label "68から70までに掲げるもののほか、46,XY性分化疾患" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_31_069/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000391 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "324" xsd:string
dcterms:identifier "3000391" xsd:string
hasExactSynonym "" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_31_070_01.pdf
rdfs:label "46,XX性分化疾患" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_31_070/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
http://nanbyodata.jp/ontology/nanbyo#3000392 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "325" xsd:string
dcterms:identifier "3000392" xsd:string
hasExactSynonym "Vipoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_31_071_01.pdf
rdfs:label "VIP産生腫瘍" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_31_071/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000393 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "326" xsd:string
dcterms:identifier "3000393" xsd:string
hasExactSynonym "Gastrinoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_31_072_01.pdf
rdfs:label "ガストリノーマ" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_31_072/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0003523
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019610
http://nanbyodata.jp/ontology/nanbyo#3000394 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "327" xsd:string
dcterms:identifier "3000394" xsd:string
hasExactSynonym "Carcinoid syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_32_073_01.pdf
rdfs:label "カルチノイド症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_32_073/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005369
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0006689
http://nanbyodata.jp/ontology/nanbyo#3000395 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "328" xsd:string
dcterms:identifier "3000395" xsd:string
hasExactSynonym "Glucagonoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_32_074_01.pdf
rdfs:label "グルカゴノーマ" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_32_074/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019959
http://nanbyodata.jp/ontology/nanbyo#3000396 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "329" xsd:string
dcterms:identifier "3000396" xsd:string
hasExactSynonym "Insulinoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_32_075_01.pdf
rdfs:label "インスリノーマ" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_32_075/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000397 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "330" xsd:string
dcterms:identifier "3000397" xsd:string
hasExactSynonym "Congenital hyperinsulinaemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_33_076_01.pdf
rdfs:label "先天性高インスリン血症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_33_076/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000398 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "331" xsd:string
dcterms:identifier "3000398" xsd:string
hasExactSynonym "Other hyperinsulinaemic hypoglycaemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_34_077_01.pdf
rdfs:label "77及び78に掲げるもののほか、高インスリン血性低血糖症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_34_077/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000399 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "332" xsd:string
dcterms:identifier "3000399" xsd:string
hasExactSynonym "Vitamin d-dependent rickets" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_34_078_01.pdf
rdfs:label "ビタミンD依存性くる病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_34_078/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000400 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "333" xsd:string
dcterms:identifier "3000400" xsd:string
hasExactSynonym "Vitamin d resistant osteomalacia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_34_079_01.pdf
rdfs:label "ビタミンD抵抗性骨軟化症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_34_079/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000401 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "334" xsd:string
dcterms:identifier "3000401" xsd:string
hasExactSynonym "Primary hypophosphataemic rickets" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_35_080_01.pdf
rdfs:label "原発性低リン血症性くる病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_35_080/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000402 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "335" xsd:string
dcterms:identifier "3000402" xsd:string
hasExactSynonym "Lipodystrophy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_36_081_01.pdf
rdfs:label "脂肪異栄養症(脂肪萎縮症)" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_36_081/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0006573
http://nanbyodata.jp/ontology/nanbyo#3000403 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "336" xsd:string
dcterms:identifier "3000403" xsd:string
hasExactSynonym "MEN1" @en
hasExactSynonym "Multiple endocrine neoplasia type 1" @en
hasExactSynonym "Wermer syndrome" @en
hasExactSynonym "Wermer症候群" @ja
hasExactSynonym "ウェルマー症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_37_082_01.pdf
rdfs:label "多発性内分泌腫瘍1型" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_37_082/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007540
http://nanbyodata.jp/ontology/nanbyo#3000404 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "337" xsd:string
dcterms:identifier "3000404" xsd:string
hasExactSynonym "MEN2" @en
hasExactSynonym "Multiple endocrine neoplasia type 2" @en
hasExactSynonym "Sipple syndrome" @en
hasExactSynonym "Sipple症候群" @ja
hasExactSynonym "シップル症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_38_083_01.pdf
rdfs:label "多発性内分泌腫瘍2型" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_38_083/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008234
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019003
http://nanbyodata.jp/ontology/nanbyo#3000405 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "338" xsd:string
dcterms:identifier "3000405" xsd:string
hasExactSynonym "Multiple endocrine neoplasia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_39_084_01.pdf
rdfs:label "84及び85に掲げるもののほか、多発性内分泌腫瘍" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_39_084/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017169
http://nanbyodata.jp/ontology/nanbyo#3000406 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "339" xsd:string
dcterms:identifier "3000406" xsd:string
hasExactSynonym "Polycystic ovary syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_39_085_01.pdf
rdfs:label "多嚢胞性卵巣症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_39_085/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008487
http://nanbyodata.jp/ontology/nanbyo#3000407 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "340" xsd:string
dcterms:identifier "3000407" xsd:string
hasExactSynonym "Turner syndrome" @en
hasExactSynonym "Turner症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_39_086_01.pdf
rdfs:label "ターナー症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_39_086/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019499
http://nanbyodata.jp/ontology/nanbyo#3000408 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "341" xsd:string
dcterms:identifier "3000408" xsd:string
hasExactSynonym "Prader-Willi syndrome" @en
hasExactSynonym "Prader-Willi症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_40_087_01.pdf
rdfs:label "プラダー・ウィリ症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_40_087/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008300
http://nanbyodata.jp/ontology/nanbyo#3000409 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "342" xsd:string
dcterms:identifier "3000409" xsd:string
hasExactSynonym "McCune-Albright syndrome" @en
hasExactSynonym "McCune-Albright症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_41_088_01.pdf
rdfs:label "マッキューン・オルブライト症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_41_088/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018919
http://nanbyodata.jp/ontology/nanbyo#3000410 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "343" xsd:string
dcterms:identifier "3000410" xsd:string
hasExactSynonym "Noonan syndrome" @en
hasExactSynonym "Noonan症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_41_089_01.pdf
rdfs:label "ヌーナン症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_41_089/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008104
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018997
http://nanbyodata.jp/ontology/nanbyo#3000411 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "344" xsd:string
dcterms:identifier "3000411" xsd:string
hasExactSynonym "Bardet-Biedl syndrome" @en
hasExactSynonym "Bardet-Biedl症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_41_090_01.pdf
rdfs:label "バルデー・ビードル症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_41_090/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0014432
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015229
http://nanbyodata.jp/ontology/nanbyo#3000412 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "345" xsd:string
dcterms:identifier "3000412" xsd:string
hasExactSynonym "JIA" @en
hasExactSynonym "juvenile idiopathic arthritis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_41_091_01.pdf
rdfs:label "若年性特発性関節炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_41_091/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011429
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "346" xsd:string
dcterms:identifier "3000413" xsd:string
hasExactSynonym "SLE" @en
hasExactSynonym "systemic lupus erythematosus" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_05_41_092_01.pdf
rdfs:label "全身性エリテマトーデス" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/05_41_092/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007915
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "347" xsd:string
dcterms:identifier "3000414" xsd:string
hasExactSynonym "PM" @en
hasExactSynonym "juvenile polymyositis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_01_002_01.pdf
rdfs:label "多発性筋炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_01_002/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019127
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019168
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019734
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "348" xsd:string
dcterms:identifier "3000415" xsd:string
hasExactSynonym "Sjogren's syndrome" @en
hasExactSynonym "Sjogren症候群" @ja
hasExactSynonym "Sjögren's Syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_01_003_01.pdf
rdfs:label "シェーグレン症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_01_003/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010030
http://nanbyodata.jp/ontology/nanbyo#3000416 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "349" xsd:string
dcterms:identifier "3000416" xsd:string
hasExactSynonym "anti-phospholipid antibody syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_01_004_01.pdf
rdfs:label "抗リン脂質抗体症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_01_004/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007140
http://nanbyodata.jp/ontology/nanbyo#3000417 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "350" xsd:string
dcterms:identifier "3000417" xsd:string
hasExactSynonym "Behcet’s disease" @en
hasExactSynonym "Behcet病" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_01_005_01.pdf
rdfs:label "ベーチェット病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_01_005/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000418 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "351" xsd:string
dcterms:identifier "3000418" xsd:string
hasExactSynonym "Takayasu arteritis" @en
hasExactSynonym "大動脈炎症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_01_006_01.pdf
rdfs:label "高安動脈炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_01_006/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017991
http://nanbyodata.jp/ontology/nanbyo#3000419 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "352" xsd:string
dcterms:identifier "3000419" xsd:string
hasExactSynonym "GPA" @en
hasExactSynonym "granulomatosis with polyangiitis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_02_007_01.pdf
rdfs:label "多発血管炎性肉芽腫症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_02_007/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012105
http://nanbyodata.jp/ontology/nanbyo#3000420 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "353" xsd:string
dcterms:identifier "3000420" xsd:string
hasExactSynonym "PN" @en
hasExactSynonym "polyangiitis nodosa" @en
hasExactSynonym "結節性多発動脈炎" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_02_008_01.pdf
rdfs:label "結節性多発血管炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_02_008/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011405
http://nanbyodata.jp/ontology/nanbyo#3000421 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "354" xsd:string
dcterms:identifier "3000421" xsd:string
hasExactSynonym "MPA" @en
hasExactSynonym "microscopic polyangiitis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_02_009_01.pdf
rdfs:label "顕微鏡的多発血管炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_02_009/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019124
http://nanbyodata.jp/ontology/nanbyo#3000422 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "355" xsd:string
dcterms:identifier "3000422" xsd:string
hasExactSynonym "EGPA" @en
hasExactSynonym "eosinophilic granulomatosis with polyangiitis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_02_010_01.pdf
rdfs:label "好酸球性多発血管炎性肉芽腫症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_02_010/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015943
http://nanbyodata.jp/ontology/nanbyo#3000423 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "356" xsd:string
dcterms:identifier "3000423" xsd:string
hasExactSynonym "Relapsing Polychondritis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_02_011_01.pdf
rdfs:label "再発性多発軟骨炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_02_011/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019125
http://nanbyodata.jp/ontology/nanbyo#3000424 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "357" xsd:string
dcterms:identifier "3000424" xsd:string
hasExactSynonym "systemic sclerosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_03_012_01.pdf
rdfs:label "強皮症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_03_012/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005100
http://nanbyodata.jp/ontology/nanbyo#3000425 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "358" xsd:string
dcterms:identifier "3000425" xsd:string
hasExactSynonym "MCTD" @en
hasExactSynonym "mixed connective tissue disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_04_013_01.pdf
rdfs:label "混合性結合組織病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_04_013/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005854
http://nanbyodata.jp/ontology/nanbyo#3000426 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "359" xsd:string
dcterms:identifier "3000426" xsd:string
hasExactSynonym "familiar Mediterranean fever" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_04_014_01.pdf
rdfs:label "家族性地中海熱" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_04_014/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000427 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "360" xsd:string
dcterms:identifier "3000427" xsd:string
hasExactSynonym "cryopyrin-associated periodic syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_05_015_01.pdf
rdfs:label "クリオピリン関連周期熱症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_05_015/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016168
http://nanbyodata.jp/ontology/nanbyo#3000428 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "361" xsd:string
dcterms:identifier "3000428" xsd:string
hasExactSynonym "TNF receptor-associated periodic fever syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_05_016_01.pdf
rdfs:label "TNF受容体関連周期性症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_05_016/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007727
http://nanbyodata.jp/ontology/nanbyo#3000429 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "362" xsd:string
dcterms:identifier "3000429" xsd:string
hasExactSynonym "Blau syndrome" @en
hasExactSynonym "Blau syndrome, early onset sarcoidosis" @en
hasExactSynonym "Blau症候群" @ja
hasExactSynonym "early onset sarcoidosis" @en
hasExactSynonym "若年発症サルコイドーシス" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_05_017_01.pdf
rdfs:label "ブラウ症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_05_017/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008523
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012281
http://nanbyodata.jp/ontology/nanbyo#3000430 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "363" xsd:string
dcterms:identifier "3000430" xsd:string
hasExactSynonym "Nakajyo-Nishimura syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_05_018_01.pdf
rdfs:label "中條・西村症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_05_018/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000431 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "364" xsd:string
dcterms:identifier "3000431" xsd:string
hasExactSynonym "hyper IgD syndrome" @en
hasExactSynonym "mevalonate kinase deficiency" @en
hasExactSynonym "メバロン酸キナーゼ欠損症" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_05_019_01.pdf
rdfs:label "高IgD症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_05_019/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009849
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012481
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017708
http://nanbyodata.jp/ontology/nanbyo#3000432 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "365" xsd:string
dcterms:identifier "3000432" xsd:string
hasExactSynonym "acne syndrome" @en
hasExactSynonym "pyoderma gangrenosum" @en
hasExactSynonym "pyogenic arthritis" @en
hasExactSynonym "pyogenic arthritis, pyoderma gangrenosum, acne syndrome" @en
hasExactSynonym "アクネ症候群" @ja
hasExactSynonym "壊疽性膿皮症" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_05_020_01.pdf
rdfs:label "化膿性無菌性関節炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_05_020/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0004471
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011438
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011462
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018824
http://nanbyodata.jp/ontology/nanbyo#3000433 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "366" xsd:string
dcterms:identifier "3000433" xsd:string
hasExactSynonym "chronic recurrent multifocal osteomyelitis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_05_021_01.pdf
rdfs:label "慢性再発性多発性骨髄炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_05_021/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009813
http://nanbyodata.jp/ontology/nanbyo#3000434 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "367" xsd:string
dcterms:identifier "3000434" xsd:string
hasExactSynonym "deficiency of the interleukin-1-receptor antagonist" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_05_022_01.pdf
rdfs:label "インターロイキンⅠ受容体拮抗分子欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_05_022/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "368" xsd:string
dcterms:identifier "3000435" xsd:string
hasExactSynonym "Other autoinflammatory diseases" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf
rdfs:label "15から23までに掲げるもののほか、自己炎症性疾患" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_05_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "368" xsd:string
dcterms:identifier "3000436" xsd:string
hasExactSynonym "ADA2欠損症" @ja
hasExactSynonym "Adenosine deaminase 2 deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf
rdfs:label "Adenosine deaminase 2欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_05_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000435
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0014306
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "368" xsd:string
dcterms:identifier "3000437" xsd:string
hasExactSynonym "APLAID" @en
hasExactSynonym "Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf
rdfs:label "自己炎症合併フォスフォリパーゼCγ2関連抗体欠損免疫異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_05_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000435
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0013944
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "368" xsd:string
dcterms:identifier "3000438" xsd:string
hasExactSynonym "CARD14 deficiency" @en
hasExactSynonym "CARD14異常症" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf
rdfs:label "Caspase recruitment domain-containing protein 14異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_05_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000435
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "368" xsd:string
dcterms:identifier "3000439" xsd:string
hasExactSynonym "Cherubism" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf
rdfs:label "ケルビズム" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_05_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000435
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007315
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "368" xsd:string
dcterms:identifier "3000440" xsd:string
hasExactSynonym "IL-10RB deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf
rdfs:label "IL-10/IL-10受容体遺伝子異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_05_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000435
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "368" xsd:string
dcterms:identifier "3000441" xsd:string
hasExactSynonym "IL-10RA deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf
rdfs:label "IL-10/IL-10受容体遺伝子異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_05_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000435
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has_notification_number "368" xsd:string
dcterms:identifier "3000442" xsd:string
hasExactSynonym "IL10 deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf
rdfs:label "IL-10/IL-10受容体遺伝子異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_05_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000435
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "368" xsd:string
dcterms:identifier "3000443" xsd:string
hasExactSynonym "NLRP12-associated periodic syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf
rdfs:label "NAPS12" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_05_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000435
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "368" xsd:string
dcterms:identifier "3000444" xsd:string
hasExactSynonym "Adenosine deaminase 2 deficiency " @en
hasExactSynonym "deficiency of the enzyme ADA2" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf
rdfs:label "DADA2" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_05_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000435
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0014306
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has_notification_number "368" xsd:string
dcterms:identifier "3000445" xsd:string
hasExactSynonym "PLCg2 deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf
rdfs:label "PLCG2異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_05_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000435
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "368" xsd:string
dcterms:identifier "3000446" xsd:string
hasExactSynonym "IL36RN deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf
rdfs:label "IL36RN欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_05_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000435
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "368" xsd:string
dcterms:identifier "3000447" xsd:string
hasExactSynonym "Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutropilic dermatosis" @en
hasExactSynonym "MJDS" @en
hasExactSynonym "Majeed syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf
rdfs:label "Majeed症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_05_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000435
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012316
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "368" xsd:string
dcterms:identifier "3000448" xsd:string
hasExactSynonym "NLRP12-associated periodic syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf
rdfs:label "NLRP-12関連周期性症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_05_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000435
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has_notification_number "368" xsd:string
dcterms:identifier "3000449" xsd:string
hasExactSynonym "PLAID" @en
hasExactSynonym "PLCG2-associated antibody deficiency and immune dysregulation" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf
rdfs:label "フォスフォリパーゼCγ2関連抗体欠損免疫異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_05_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000435
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0013766
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "368" xsd:string
dcterms:identifier "3000450" xsd:string
hasExactSynonym "RBCK1 deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf
rdfs:label "RBCK1欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_05_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000435
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "368" xsd:string
dcterms:identifier "3000451" xsd:string
hasExactSynonym "SLC29A3 deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf
rdfs:label "SLC29A3異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_05_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000435
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has_notification_number "368" xsd:string
dcterms:identifier "3000452" xsd:string
hasExactSynonym "A20 haploinsufficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf
rdfs:label "A20ハプロ不全症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_05_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000435
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has_notification_number "368" xsd:string
dcterms:identifier "3000453" xsd:string
hasExactSynonym "FCAS4" @en
hasExactSynonym "Familial cold autoinflammatory syndrome 4" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_05_023_01.pdf
rdfs:label "NLRC4異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/06_05_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000435
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0014498
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "370" xsd:string
dcterms:identifier "3000454" xsd:string
hasExactSynonym "Diabetes mellitus type 1" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_06_05_024_01.pdf
rdfs:label "1型糖尿病" @ja
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rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009100
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "371" xsd:string
dcterms:identifier "3000455" xsd:string
hasExactSynonym "Diabetes mellitus type 2" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_07_01_001_01.pdf
rdfs:label "2型糖尿病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/07_01_001/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007452
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007455
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has_notification_number "372" xsd:string
dcterms:identifier "3000456" xsd:string
hasExactSynonym "MODY" @en
hasExactSynonym "MODY" @ja
hasExactSynonym "maturity-onset diabetes of the young" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_07_01_002_01.pdf
rdfs:label "若年発症成人型糖尿病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/07_01_002/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018911
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "373" xsd:string
dcterms:identifier "3000457" xsd:string
hasExactSynonym "neonatal diabetes mellitus" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_07_01_003_01.pdf
rdfs:label "新生児糖尿病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/07_01_003/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016391
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "374" xsd:string
dcterms:identifier "3000458" xsd:string
hasExactSynonym "insulin receptor abnormality" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_07_01_004_01.pdf
rdfs:label "インスリン受容体異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/07_01_004/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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has_notification_number "375" xsd:string
dcterms:identifier "3000459" xsd:string
hasExactSynonym "lipoatrophic diabetes" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_07_01_005_01.pdf
rdfs:label "脂肪萎縮性糖尿病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/07_01_005/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005827
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007906
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018883
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "376" xsd:string
dcterms:identifier "3000460" xsd:string
hasExactSynonym "Other diabetes mellitus" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_07_01_006_01.pdf
rdfs:label "1から6までに掲げるもののほか、糖尿病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/07_01_006/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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has_notification_number "377" xsd:string
dcterms:identifier "3000461" xsd:string
hasExactSynonym "PKU" @en
hasExactSynonym "Phenylketonuria" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_07_01_007_01.pdf
rdfs:label "フェニルケトン尿症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/07_01_007/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009861
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has_notification_number "378" xsd:string
dcterms:identifier "3000462" xsd:string
hasExactSynonym "HPA" @en
hasExactSynonym "Hyperphenylalaninemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_01_001_01.pdf
rdfs:label "高フェニルアラニン血症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_01_001/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016543
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has_notification_number "379" xsd:string
dcterms:identifier "3000463" xsd:string
hasExactSynonym "Tyrosinemia type 1" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_01_002_01.pdf
rdfs:label "高チロシン血症1型" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_01_002/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010161
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has_notification_number "380" xsd:string
dcterms:identifier "3000464" xsd:string
hasExactSynonym "Tyrosinemia type 2" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_01_003_01.pdf
rdfs:label "高チロシン血症2型" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_01_003/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010160
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has_notification_number "381" xsd:string
dcterms:identifier "3000465" xsd:string
hasExactSynonym "Tyrosinemia type 3" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_01_004_01.pdf
rdfs:label "高チロシン血症3型" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_01_004/
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010162
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has_notification_number "382" xsd:string
dcterms:identifier "3000466" xsd:string
hasExactSynonym "Hyperprolinemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_01_005_01.pdf
rdfs:label "高プロリン血症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_01_005/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0023419
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has_notification_number "383" xsd:string
dcterms:identifier "3000467" xsd:string
hasExactSynonym "Hyperimidodipeptiduria" @en
hasExactSynonym "Prolidase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_01_006_01.pdf
rdfs:label "プロリダーゼ欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_01_006/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008221
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hasExactSynonym "maple syrup urine disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_01_007_01.pdf
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hasExactSynonym "Homocystinuria" @en
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has_notification_number "386" xsd:string
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hasExactSynonym "Hypermethioninemia" @en
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has_notification_number "387" xsd:string
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hasExactSynonym "Nonketotic hyperglycinaemia" @en
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has_notification_number "388" xsd:string
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hasExactSynonym "N-acetylglutamate synthetase deficiency" @en
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has_notification_number "389" xsd:string
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hasExactSynonym "Carbamoylphosphate synthetase deficiency" @en
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has_notification_number "390" xsd:string
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hasExactSynonym "Ornitine transcarbamylase deficiency" @en
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has_notification_number "391" xsd:string
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hasExactSynonym "Argininosuccinate synthetase deficiency" @en
hasExactSynonym "Citrullinaemia type 1" @en
hasExactSynonym "シトルリン血症" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_01_014_01.pdf
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hasExactSynonym "Argininosuccinic aciduria" @en
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has_notification_number "393" xsd:string
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hasExactSynonym "Hyperarginemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_01_016_01.pdf
rdfs:label "高アルギニン血症" @ja
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has_notification_number "394" xsd:string
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hasExactSynonym "Citrin deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_01_017_01.pdf
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has_notification_number "395" xsd:string
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hasExactSynonym "HHH" @en
hasExactSynonym "Hyperornithinemia-Hyperammonemia-Homocitrullinuria" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_01_018_01.pdf
rdfs:label "高オルニチン血症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_01_018/
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has_notification_number "395" xsd:string
dcterms:identifier "3000480" xsd:string
hasExactSynonym "" @en
hasExactSynonym "gyrate atrophy of choroid and retina" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_01_018_01.pdf
rdfs:label "脳回転状脈絡膜網膜萎縮症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_01_018/
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has_notification_number "396" xsd:string
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hasExactSynonym "Hartnup disease" @en
hasExactSynonym "Hartnup病" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_01_019_01.pdf
rdfs:label "ハートナップ病" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009324
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has_notification_number "397" xsd:string
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hasExactSynonym "Lysinuric protein intolerance" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_01_020_01.pdf
rdfs:label "リジン尿性蛋白不耐症" @ja
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has_notification_number "398" xsd:string
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hasExactSynonym "Cystinuria" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_01_021_01.pdf
rdfs:label "シスチン尿症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009067
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has_notification_number "399" xsd:string
dcterms:identifier "3000484" xsd:string
hasExactSynonym "Other disorders of amino acid metabolism" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_01_022_01.pdf
rdfs:label "1から21までに掲げるもののほか、アミノ酸代謝異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_01_022/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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has_notification_number "400" xsd:string
dcterms:identifier "3000485" xsd:string
hasExactSynonym "MMA" @en
hasExactSynonym "methylmalonic acidaemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_02_023_01.pdf
rdfs:label "メチルマロン酸血症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_02_023/
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has_notification_number "401" xsd:string
dcterms:identifier "3000486" xsd:string
hasExactSynonym "PA" @en
hasExactSynonym "propionic acidaemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_02_024_01.pdf
rdfs:label "プロピオン酸血症" @ja
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has_notification_number "402" xsd:string
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hasExactSynonym "beta-ketothiolase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_02_025_01.pdf
rdfs:label "β-ケトチオラーゼ欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_02_025/
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008760
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has_notification_number "403" xsd:string
dcterms:identifier "3000488" xsd:string
hasExactSynonym "isovaleric acidaemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_02_026_01.pdf
rdfs:label "イソ吉草酸血症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_02_026/
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has_notification_number "404" xsd:string
dcterms:identifier "3000489" xsd:string
hasExactSynonym "3-methylcrotonyl-CoA carboxylase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_02_027_01.pdf
rdfs:label "3-メチルクロトニルCoAカルボキシラーゼ欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_02_027/
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008861
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018950
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has_notification_number "405" xsd:string
dcterms:identifier "3000490" xsd:string
hasExactSynonym "Methylglutaconic aciduria" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_02_028_01.pdf
rdfs:label "メチルグルタコン酸尿症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_02_028/
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has_notification_number "406" xsd:string
dcterms:identifier "3000491" xsd:string
hasExactSynonym "3-hydroxy-3-methylglutaric acidaemia" @en
hasExactSynonym "HMG-CoA lyase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_02_029_01.pdf
rdfs:label "3-ヒドロキシ-3-メチルグルタル酸血症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009520
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has_notification_number "407" xsd:string
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hasExactSynonym "3-hydroxy-3-methylglutaryl-CoA synthase deficiency" @en
hasExactSynonym "HMG-CoA synthase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_02_030_01.pdf
rdfs:label "3-ヒドロキシ-3-メチルグルタリルCoA合成酵素欠損症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011614
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has_notification_number "408" xsd:string
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hasExactSynonym "SCOT欠損症" @ja
hasExactSynonym "succinyl-CoA:3-ketoacid CoA transferase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_02_031_01.pdf
rdfs:label "スクシニル-CoA:3-ケト酸CoAトランスフェラーゼ欠損症" @ja
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has_notification_number "409" xsd:string
dcterms:identifier "3000494" xsd:string
hasExactSynonym "multiple carboxylase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_02_032_01.pdf
rdfs:label "複合カルボキシラーゼ欠損症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015454
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has_notification_number "410" xsd:string
dcterms:identifier "3000495" xsd:string
hasExactSynonym "Glutaric acidaemia type 1" @en
hasExactSynonym "Glutaryl-CoA dehydrogenase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_02_033_01.pdf
rdfs:label "グルタル酸血症1型" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009281
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has_notification_number "411" xsd:string
dcterms:identifier "3000496" xsd:string
hasExactSynonym "Glutaric acidaemia type 2" @en
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hasExactSynonym "multiple acyl-CoA dehydrogenase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_02_034_01.pdf
rdfs:label "グルタル酸血症2型" @ja
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has_notification_number "412" xsd:string
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hasExactSynonym "Primary hyperoxaluria" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_02_035_01.pdf
rdfs:label "原発性高シュウ酸尿症" @ja
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has_notification_number "413" xsd:string
dcterms:identifier "3000498" xsd:string
hasExactSynonym "Alkaptonuria" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_02_036_01.pdf
rdfs:label "アルカプトン尿症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008753
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has_notification_number "414" xsd:string
dcterms:identifier "3000499" xsd:string
hasExactSynonym "GKD" @en
hasExactSynonym "Glycerol kinase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_02_037_01.pdf
rdfs:label "グリセロール尿症" @ja
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rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010613
http://nanbyodata.jp/ontology/nanbyo#3000500 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "415" xsd:string
dcterms:identifier "3000500" xsd:string
hasExactSynonym "Inborn errors of bile acid metabolism" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_02_038_01.pdf
rdfs:label "先天性胆汁酸代謝異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_02_038/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000501 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "416" xsd:string
dcterms:identifier "3000501" xsd:string
hasExactSynonym "Other disorders of organic acid metabolism" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_02_039_01.pdf
rdfs:label "23から38までに掲げるもののほか、有機酸代謝異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_02_039/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000502 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "417" xsd:string
dcterms:identifier "3000502" xsd:string
hasExactSynonym "Carnitine uptake defect" @en
hasExactSynonym "Organic cation transporter 2 deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_03_040_01.pdf
rdfs:label "全身性カルニチン欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_03_040/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008919
http://nanbyodata.jp/ontology/nanbyo#3000503 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "418" xsd:string
dcterms:identifier "3000503" xsd:string
hasExactSynonym "Carnitine palmitoyl transferase I deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_03_041_01.pdf
rdfs:label "カルニチンパルミトイルトランスフェラーゼⅠ欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_03_041/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009705
http://nanbyodata.jp/ontology/nanbyo#3000504 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "419" xsd:string
dcterms:identifier "3000504" xsd:string
hasExactSynonym "Carnitine palmitoyl transferase II deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_03_042_01.pdf
rdfs:label "カルニチンパルミトイルトランスフェラーゼⅡ欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_03_042/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015515
http://nanbyodata.jp/ontology/nanbyo#3000505 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "420" xsd:string
dcterms:identifier "3000505" xsd:string
hasExactSynonym "Carnitine-acylcarnitine translocase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_03_043_01.pdf
rdfs:label "カルニチンアシルカルニチントランスロカーゼ欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_03_043/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008918
http://nanbyodata.jp/ontology/nanbyo#3000506 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "421" xsd:string
dcterms:identifier "3000506" xsd:string
hasExactSynonym "Very-long-chain acyl-CoA dehydrogenase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_03_044_01.pdf
rdfs:label "極長鎖アシルCoA脱水素酵素欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_03_044/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000507 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "422" xsd:string
dcterms:identifier "3000507" xsd:string
hasExactSynonym "Medium-chain acyl-CoA dehydrogenase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_03_045_01.pdf
rdfs:label "中鎖アシルCoA脱水素酵素欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_03_045/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008721
http://nanbyodata.jp/ontology/nanbyo#3000508 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "423" xsd:string
dcterms:identifier "3000508" xsd:string
hasExactSynonym "Short-chain acyl-CoA dehydrogenase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_03_046_01.pdf
rdfs:label "短鎖アシルCoA脱水素酵素欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_03_046/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008722
http://nanbyodata.jp/ontology/nanbyo#3000509 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "424" xsd:string
dcterms:identifier "3000509" xsd:string
hasExactSynonym "Trifunctional protein deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_03_047_01.pdf
rdfs:label "三頭酵素欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_03_047/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012172
http://nanbyodata.jp/ontology/nanbyo#3000510 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "425" xsd:string
dcterms:identifier "3000510" xsd:string
hasExactSynonym "3-hydroxy acyl-CoA dehydrogenase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_03_048_01.pdf
rdfs:label "3-ヒドロキシアシルCoA脱水素酵素欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_03_048/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009278
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017715
http://nanbyodata.jp/ontology/nanbyo#3000511 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "426" xsd:string
dcterms:identifier "3000511" xsd:string
hasExactSynonym "Other disorders of fatty-acid metabolism" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_03_049_01.pdf
rdfs:label "40から48までに掲げるもののほか、脂肪酸代謝異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_03_049/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000512 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "427" xsd:string
dcterms:identifier "3000512" xsd:string
hasExactSynonym "Pyruvate dehydrogenase complex deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_04_050_01.pdf
rdfs:label "ピルビン酸脱水素酵素複合体欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_04_050/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010717
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019169
http://nanbyodata.jp/ontology/nanbyo#3000513 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "428" xsd:string
dcterms:identifier "3000513" xsd:string
hasExactSynonym "Pyruvate carboxylase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_04_051_01.pdf
rdfs:label "ピルビン酸カルボキシラーゼ欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_04_051/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009949
http://nanbyodata.jp/ontology/nanbyo#3000514 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "429" xsd:string
dcterms:identifier "3000514" xsd:string
hasExactSynonym "Fumarase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_04_052_01.pdf
rdfs:label "フマラーゼ欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_04_052/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011730
http://nanbyodata.jp/ontology/nanbyo#3000515 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "430" xsd:string
dcterms:identifier "3000515" xsd:string
hasExactSynonym "Succinyl-CoA ligase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_04_053_01.pdf
rdfs:label "スクシニル-CoAリガーゼ欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_04_053/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000516 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "431" xsd:string
dcterms:identifier "3000516" xsd:string
hasExactSynonym "Mitochondrial respiratory chain disorders" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_04_054_01.pdf
rdfs:label "ミトコンドリア呼吸鎖複合体欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_04_054/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000517 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "432" xsd:string
dcterms:identifier "3000517" xsd:string
hasExactSynonym "Mitochondrial DNA depletion syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_04_055_01.pdf
rdfs:label "ミトコンドリアDNA枯渇症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_04_055/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018158
http://nanbyodata.jp/ontology/nanbyo#3000518 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "433" xsd:string
dcterms:identifier "3000518" xsd:string
hasExactSynonym "Diseases due to mitochondrial DNA mutation" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_04_056_01.pdf
rdfs:label "ミトコンドリアDNA突然変異" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_04_056/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000519 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "433" xsd:string
dcterms:identifier "3000519" xsd:string
hasExactSynonym "mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes)" @en
hasExactSynonym "ミトコンドリア脳筋症" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_04_056_01.pdf
rdfs:label "MELAS" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_04_056/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000518
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010789
http://nanbyodata.jp/ontology/nanbyo#3000520 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "433" xsd:string
dcterms:identifier "3000520" xsd:string
hasExactSynonym "Myoclonus epilepsy associated with ragged-red fibers" @en
hasExactSynonym "ミトコンドリア脳筋症" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_04_056_01.pdf
rdfs:label "MERRF" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_04_056/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000518
http://nanbyodata.jp/ontology/nanbyo#3000521 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "433" xsd:string
dcterms:identifier "3000521" xsd:string
hasExactSynonym "Leigh disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_04_056_01.pdf
rdfs:label "リー症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_04_056/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000518
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009723
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018859
http://nanbyodata.jp/ontology/nanbyo#3000522 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "434" xsd:string
dcterms:identifier "3000522" xsd:string
hasExactSynonym "Diseases due to mitochondrial DNA deletion" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_04_057_01.pdf
rdfs:label "ミトコンドリアDNA欠失" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_04_057/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000523 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "434" xsd:string
dcterms:identifier "3000523" xsd:string
hasExactSynonym "Kearns-Sayre syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_04_057_01.pdf
rdfs:label "カーンズ・セイヤー症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_04_057/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000522
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010787
http://nanbyodata.jp/ontology/nanbyo#3000524 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "435" xsd:string
dcterms:identifier "3000524" xsd:string
hasExactSynonym "Other mitochondrial diseases" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_04_058_01.pdf
rdfs:label "50から57までに掲げるもののほか、ミトコンドリア病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_04_058/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000525 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "436" xsd:string
dcterms:identifier "3000525" xsd:string
hasExactSynonym "HFI" @en
hasExactSynonym "Hereditary fructose intolerance" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_05_059_01.pdf
rdfs:label "遺伝性フルクトース不耐症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_05_059/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009249
http://nanbyodata.jp/ontology/nanbyo#3000526 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "437" xsd:string
dcterms:identifier "3000526" xsd:string
hasExactSynonym "Galactose-1-phosphate uridyltransferase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_05_060_01.pdf
rdfs:label "ガラクトース-1-リン酸ウリジルトランスフェラーゼ欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_05_060/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009258
http://nanbyodata.jp/ontology/nanbyo#3000527 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "438" xsd:string
dcterms:identifier "3000527" xsd:string
hasExactSynonym "Galactokinase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_05_061_01.pdf
rdfs:label "ガラクトキナーゼ欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_05_061/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009255
http://nanbyodata.jp/ontology/nanbyo#3000528 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "439" xsd:string
dcterms:identifier "3000528" xsd:string
hasExactSynonym "UDP-galactose-4-epimerase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_05_062_01.pdf
rdfs:label "ウリジル二リン酸ガラクトース-4-エピメラーゼ欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_05_062/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009257
http://nanbyodata.jp/ontology/nanbyo#3000529 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "440" xsd:string
dcterms:identifier "3000529" xsd:string
hasExactSynonym "Fructose-1,6-bisphosphatase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_05_063_01.pdf
rdfs:label "フルクトース-1,6-ビスホスファターゼ欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_05_063/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009251
http://nanbyodata.jp/ontology/nanbyo#3000530 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "441" xsd:string
dcterms:identifier "3000530" xsd:string
hasExactSynonym "Phosphoenolpyruvate carboxykinase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_05_064_01.pdf
rdfs:label "ホスホエノールピルビン酸カルボキシキナーゼ欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_05_064/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009866
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017320
http://nanbyodata.jp/ontology/nanbyo#3000531 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "442" xsd:string
dcterms:identifier "3000531" xsd:string
hasExactSynonym "Glycogen synthase deficiency" @en
hasExactSynonym "糖原病0型" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_05_065_01.pdf
rdfs:label "グリコーゲン合成酵素欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_05_065/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009414
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has_notification_number "475" xsd:string
dcterms:identifier "3000564" xsd:string
hasExactSynonym "Acid lipase deficiency" @en
hasExactSynonym "Wolman disease and cholesterol ester storage disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_06_098_01.pdf
rdfs:label "酸性リパーゼ欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_06_098/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019148
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "476" xsd:string
dcterms:identifier "3000565" xsd:string
hasExactSynonym "Cystinosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_06_099_01.pdf
rdfs:label "シスチン症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_06_099/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016239
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "477" xsd:string
dcterms:identifier "3000566" xsd:string
hasExactSynonym "Free Sialic Acid Storage Disease" @en
hasExactSynonym "Salla Disease" @en
hasExactSynonym "infantile Free Sialic Acid Storage Disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_06_100_01.pdf
rdfs:label "遊離シアル酸蓄積症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_06_100/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010027
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011449
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019366
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "478" xsd:string
dcterms:identifier "3000567" xsd:string
hasExactSynonym "NCL" @en
hasExactSynonym "Neuronal Ceroid Lipofuscinoses" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_06_101_01.pdf
rdfs:label "神経セロイドリポフスチン症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_06_101/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016295
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "479" xsd:string
dcterms:identifier "3000568" xsd:string
hasExactSynonym "Other lysosomal diseases" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_06_102_01.pdf
rdfs:label "75から101までに掲げるもののほか、ライソゾーム病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_06_102/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "480" xsd:string
dcterms:identifier "3000569" xsd:string
hasExactSynonym "Peroxisome Biogenesis Disorders" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_07_103_01.pdf
rdfs:label "ペルオキシソーム形成異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_07_103/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019234
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019609
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "481" xsd:string
dcterms:identifier "3000570" xsd:string
hasExactSynonym "Adrenoleukodystrophy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_07_104_01.pdf
rdfs:label "副腎白質ジストロフィー" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_07_104/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010247
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018544
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "482" xsd:string
dcterms:identifier "3000571" xsd:string
hasExactSynonym "Refsum disease" @en
hasExactSynonym "Refsum病" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_07_105_01.pdf
rdfs:label "レフサム病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_07_105/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009958
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "483" xsd:string
dcterms:identifier "3000572" xsd:string
hasExactSynonym "Other peroxisomal diseases" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_07_106_01.pdf
rdfs:label "103から105までに掲げるもののほか、ペルオキシソーム病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_07_106/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "484" xsd:string
dcterms:identifier "3000573" xsd:string
hasExactSynonym "Wilson disease" @en
hasExactSynonym "Wilson病" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_08_107_01.pdf
rdfs:label "ウィルソン病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_08_107/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010200
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "485" xsd:string
dcterms:identifier "3000574" xsd:string
hasExactSynonym "Menkes disease" @en
hasExactSynonym "Menkes病" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_08_108_01.pdf
rdfs:label "メンケス病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_08_108/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010651
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "486" xsd:string
dcterms:identifier "3000575" xsd:string
hasExactSynonym "Occipital horn syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_08_109_01.pdf
rdfs:label "オクシピタル・ホーン症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_08_109/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010572
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "487" xsd:string
dcterms:identifier "3000576" xsd:string
hasExactSynonym "Aceruloplasminemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_08_110_01.pdf
rdfs:label "無セルロプラスミン血症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_08_110/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011426
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "488" xsd:string
dcterms:identifier "3000577" xsd:string
hasExactSynonym "sulfite oxidase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_08_111_01.pdf
rdfs:label "亜硫酸酸化酵素欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_08_111/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010089
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "489" xsd:string
dcterms:identifier "3000578" xsd:string
hasExactSynonym "Acrodermatitis enteropathica" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_08_112_01.pdf
rdfs:label "先天性腸性肢端皮膚炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_08_112/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008713
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "490" xsd:string
dcterms:identifier "3000579" xsd:string
hasExactSynonym "Other disorders of metal metabolism" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_08_113_01.pdf
rdfs:label "107から112までに掲げるもののほか、金属代謝異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_08_113/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "491" xsd:string
dcterms:identifier "3000580" xsd:string
hasExactSynonym "HPRT" @en
hasExactSynonym "Hypoxanthine-guanine phosphoribosyltransferase " @en
hasExactSynonym "Hypoxanthine-guanine phosphoribosyltransferase deficiency" @en
hasExactSynonym "Lesch-Nyhan syndrome" @en
hasExactSynonym "レッシュ・ナイハン症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_09_114_01.pdf
rdfs:label "ヒポキサンチングアニンホスホリボシルトランスフェラーゼ欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_09_114/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010298
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016088
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "492" xsd:string
dcterms:identifier "3000581" xsd:string
hasExactSynonym "Adenine phosphoribosyltransferase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_09_115_01.pdf
rdfs:label "アデニンホスホリボシルトランスフェラーゼ欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_09_115/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0013869
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "493" xsd:string
dcterms:identifier "3000582" xsd:string
hasExactSynonym "Xanthinuria" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_09_116_01.pdf
rdfs:label "キサンチン尿症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_09_116/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "494" xsd:string
dcterms:identifier "3000583" xsd:string
hasExactSynonym "Genetic defects in urate transporters" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_09_117_01.pdf
rdfs:label "尿酸トランスポーター異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_09_117/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000584 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "495" xsd:string
dcterms:identifier "3000584" xsd:string
hasExactSynonym "Orotic aciduria" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_09_118_01.pdf
rdfs:label "オロト酸尿症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_09_118/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009797
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "496" xsd:string
dcterms:identifier "3000585" xsd:string
hasExactSynonym "Other disorders of purine and pyrimidine metabolism" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_09_119_01.pdf
rdfs:label "114から118までに掲げるもののほか、プリンピリミジン代謝異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_09_119/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000586 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "497" xsd:string
dcterms:identifier "3000586" xsd:string
hasExactSynonym "Hereditary folate malabsorption" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_10_120_01.pdf
rdfs:label "先天性葉酸吸収不全症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_10_120/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009238
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "498" xsd:string
dcterms:identifier "3000587" xsd:string
hasExactSynonym "Other disorders of vitamin metabolism" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_10_121_01.pdf
rdfs:label "120に掲げるもののほか、ビタミン代謝異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_10_121/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "499" xsd:string
dcterms:identifier "3000588" xsd:string
hasExactSynonym "Tetrahydrobiopterin deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_11_122_01.pdf
rdfs:label "ビオプテリン代謝異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_11_122/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "500" xsd:string
dcterms:identifier "3000589" xsd:string
hasExactSynonym "Tyrosine hydroxylase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_11_123_01.pdf
rdfs:label "チロシン水酸化酵素欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_11_123/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0100064
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "501" xsd:string
dcterms:identifier "3000590" xsd:string
hasExactSynonym "Aromatic L-amino acid decarboxylase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_11_124_01.pdf
rdfs:label "芳香族L-アミノ酸脱炭酸酵素欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_11_124/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012084
http://nanbyodata.jp/ontology/nanbyo#3000591 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "502" xsd:string
dcterms:identifier "3000591" xsd:string
hasExactSynonym "Dopamine beta hydroxylase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_11_125_01.pdf
rdfs:label "ドーパミンβ-水酸化酵素欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_11_125/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009123
http://nanbyodata.jp/ontology/nanbyo#3000592 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "503" xsd:string
dcterms:identifier "3000592" xsd:string
hasExactSynonym "Gamma-amino butyrate aminotransferase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_11_126_01.pdf
rdfs:label "GABAアミノ基転移酵素欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_11_126/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000593 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "504" xsd:string
dcterms:identifier "3000593" xsd:string
hasExactSynonym "Succinic semialdehyde dehydrogenase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_11_127_01.pdf
rdfs:label "コハク酸セミアルデヒド脱水素酵素欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_11_127/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010083
http://nanbyodata.jp/ontology/nanbyo#3000594 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "505" xsd:string
dcterms:identifier "3000594" xsd:string
hasExactSynonym "Other disorder of neurotransmitter metabolism and transport" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_11_128_01.pdf
rdfs:label "122から127までに掲げるもののほか、神経伝達物質異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_11_128/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000595 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "506" xsd:string
dcterms:identifier "3000595" xsd:string
hasExactSynonym "Primary hyperchylomicronaemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_12_129_01.pdf
rdfs:label "原発性高カイロミクロン血症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_12_129/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000596 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "507" xsd:string
dcterms:identifier "3000596" xsd:string
hasExactSynonym "Familial hypercholesterolaemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_12_130_01.pdf
rdfs:label "家族性高コレステロール血症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_12_130/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000597 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "508" xsd:string
dcterms:identifier "3000597" xsd:string
hasExactSynonym "Familial combined hyperlipidaemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_12_131_01.pdf
rdfs:label "家族性複合型高脂血症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_12_131/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000598 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "509" xsd:string
dcterms:identifier "3000598" xsd:string
hasExactSynonym "Abetalipoproteinemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_12_132_01.pdf
rdfs:label "無β-リポタンパク血症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_12_132/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008692
http://nanbyodata.jp/ontology/nanbyo#3000599 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "510" xsd:string
dcterms:identifier "3000599" xsd:string
hasExactSynonym "HDL deficiency" @en
hasExactSynonym "HDL欠乏症" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_12_133_01.pdf
rdfs:label "高比重リポタンパク欠乏症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_12_133/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000600 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "511" xsd:string
dcterms:identifier "3000600" xsd:string
hasExactSynonym "Other disorder of lipid metabolism" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_12_134_01.pdf
rdfs:label "129から133までに掲げるもののほか、脂質代謝異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_12_134/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000601 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "512" xsd:string
dcterms:identifier "3000601" xsd:string
hasExactSynonym "Ehlers-Danlos syndrome" @en
hasExactSynonym "Ehlers-Danlos症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_13_135_01.pdf
rdfs:label "エーラス・ダンロス症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_13_135/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020066
http://nanbyodata.jp/ontology/nanbyo#3000602 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "513" xsd:string
dcterms:identifier "3000602" xsd:string
hasExactSynonym "Lipoid proteinosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_13_136_01.pdf
rdfs:label "リポイドタンパク症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_13_136/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009530
http://nanbyodata.jp/ontology/nanbyo#3000603 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "514" xsd:string
dcterms:identifier "3000603" xsd:string
hasExactSynonym "Other connective tissue disorder" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_13_137_01.pdf
rdfs:label "135及び136に掲げるもののほか、結合組織異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_13_137/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000604 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "515" xsd:string
dcterms:identifier "3000604" xsd:string
hasExactSynonym "porphyria" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_14_138_01.pdf
rdfs:label "先天性ポルフィリン症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_14_138/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019142
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0037939
http://nanbyodata.jp/ontology/nanbyo#3000605 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "516" xsd:string
dcterms:identifier "3000605" xsd:string
hasExactSynonym "Alpha-1-antitrypsin deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_08_15_139_01.pdf
rdfs:label "α1-アンチトリプシン欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/08_15_139/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0013282
http://nanbyodata.jp/ontology/nanbyo#3000606 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "517" xsd:string
dcterms:identifier "3000606" xsd:string
hasExactSynonym "Megaloblastic anaemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_01_001_01.pdf
rdfs:label "巨赤芽球性貧血" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_01_001/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000607 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "518" xsd:string
dcterms:identifier "3000607" xsd:string
hasExactSynonym "acquired pure red cell aplasia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_02_002_01.pdf
rdfs:label "後天性赤芽球癆" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_02_002/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020338
http://nanbyodata.jp/ontology/nanbyo#3000608 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "519" xsd:string
dcterms:identifier "3000608" xsd:string
hasExactSynonym "Diamond-Blackfan anaemia" @en
hasExactSynonym "congenital red cell aplasia" @en
hasExactSynonym "ダイアモンド・ブラックファン貧血" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_02_003_01.pdf
rdfs:label "先天性赤芽球癆" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_02_003/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000609 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "520" xsd:string
dcterms:identifier "3000609" xsd:string
hasExactSynonym "CDA" @en
hasExactSynonym "congenital dyserythropoietic anaemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_03_004_01.pdf
rdfs:label "先天性赤血球形成異常性貧血" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_03_004/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011855
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019403
http://nanbyodata.jp/ontology/nanbyo#3000610 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "521" xsd:string
dcterms:identifier "3000610" xsd:string
hasExactSynonym "sideroblastic anaemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_04_005_01.pdf
rdfs:label "鉄芽球性貧血" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_04_005/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000611 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "522" xsd:string
dcterms:identifier "3000611" xsd:string
hasExactSynonym "congenital atransferrinemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_05_006_01.pdf
rdfs:label "無トランスフェリン血症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_05_006/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008846
http://nanbyodata.jp/ontology/nanbyo#3000612 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "523" xsd:string
dcterms:identifier "3000612" xsd:string
hasExactSynonym "CAD" @en
hasExactSynonym "cold agglutinin disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_06_007_01.pdf
rdfs:label "寒冷凝集素症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_06_007/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005010
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018922
http://nanbyodata.jp/ontology/nanbyo#3000613 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "524" xsd:string
dcterms:identifier "3000613" xsd:string
hasExactSynonym "PCH" @en
hasExactSynonym "paroxysmal cold haemoglobinuria" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_06_008_01.pdf
rdfs:label "発作性寒冷ヘモグロビン尿症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_06_008/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019533
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020135
http://nanbyodata.jp/ontology/nanbyo#3000614 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "525" xsd:string
dcterms:identifier "3000614" xsd:string
hasExactSynonym "AIHA" @en
hasExactSynonym "autoimmune haemolytic anaemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_06_009_01.pdf
rdfs:label "7及び8に掲げるもののほか、自己免疫性溶血性貧血" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_06_009/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020108
http://nanbyodata.jp/ontology/nanbyo#3000615 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "526" xsd:string
dcterms:identifier "3000615" xsd:string
hasExactSynonym "PNH" @en
hasExactSynonym "paroxysmal nocturnal haemoglobinuria" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_07_010_01.pdf
rdfs:label "発作性夜間ヘモグロビン尿症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_07_010/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018641
http://nanbyodata.jp/ontology/nanbyo#3000616 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "527" xsd:string
dcterms:identifier "3000616" xsd:string
hasExactSynonym "HS" @en
hasExactSynonym "hereditary spherocytosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_08_011_01.pdf
rdfs:label "遺伝性球状赤血球症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_08_011/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019350
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019395
http://nanbyodata.jp/ontology/nanbyo#3000617 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "528" xsd:string
dcterms:identifier "3000617" xsd:string
hasExactSynonym "Hereditary stomatocytosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_08_012_01.pdf
rdfs:label "口唇赤血球症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_08_012/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020102
http://nanbyodata.jp/ontology/nanbyo#3000618 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "529" xsd:string
dcterms:identifier "3000618" xsd:string
hasExactSynonym "SCD" @en
hasExactSynonym "sickle cell disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_08_013_01.pdf
rdfs:label "鎌状赤血球症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_08_013/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000359
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007374
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011382
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018484
http://nanbyodata.jp/ontology/nanbyo#3000619 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "530" xsd:string
dcterms:identifier "3000619" xsd:string
hasExactSynonym "Unstable haemoglobin disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_08_014_01.pdf
rdfs:label "不安定ヘモグロビン症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_08_014/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000620 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "531" xsd:string
dcterms:identifier "3000620" xsd:string
hasExactSynonym "thalassaemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_08_015_01.pdf
rdfs:label "サラセミア" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_08_015/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000621 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "532" xsd:string
dcterms:identifier "3000621" xsd:string
hasExactSynonym "Glucose-6-phosphate dehydrogenase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_08_016_01.pdf
rdfs:label "グルコース-6-リン酸脱水素酵素欠乏症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_08_016/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005775
http://nanbyodata.jp/ontology/nanbyo#3000622 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "533" xsd:string
dcterms:identifier "3000622" xsd:string
hasExactSynonym "Hemolytic anaemia due to red cell pyruvate kinase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_08_017_01.pdf
rdfs:label "ピルビン酸キナーゼ欠乏性貧血" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_08_017/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000623 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "534" xsd:string
dcterms:identifier "3000623" xsd:string
hasExactSynonym "Other hereditary haemolytic anaemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_08_018_01.pdf
rdfs:label "11から17までに掲げるもののほか、遺伝性溶血性貧血" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_08_018/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000624 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "534" xsd:string
dcterms:identifier "3000624" xsd:string
hasExactSynonym "Hereditary elliptocytosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_08_018_01.pdf
rdfs:label "遺伝性楕円赤血球症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_08_018/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000623
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017319
http://nanbyodata.jp/ontology/nanbyo#3000625 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "534" xsd:string
dcterms:identifier "3000625" xsd:string
hasExactSynonym "Hereditary pyropoikilocytosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_08_018_01.pdf
rdfs:label "遺伝性熱変形赤血球症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_08_018/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000623
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009948
http://nanbyodata.jp/ontology/nanbyo#3000626 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "534" xsd:string
dcterms:identifier "3000626" xsd:string
hasExactSynonym "Classic hereditary Xerocytosis" @en
hasExactSynonym "古典的遺伝性乾燥赤血球症" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_08_018_01.pdf
rdfs:label "Classic hereditary Xerocytosis" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_08_018/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000623
http://nanbyodata.jp/ontology/nanbyo#3000627 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "534" xsd:string
dcterms:identifier "3000627" xsd:string
hasExactSynonym "Somatocytic Xerocytosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_08_018_01.pdf
rdfs:label "Somatocytic Xerocytosis" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_08_018/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000623
http://nanbyodata.jp/ontology/nanbyo#3000628 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "534" xsd:string
dcterms:identifier "3000628" xsd:string
hasExactSynonym "Xerocytosis with high phosphatiylcholine hemolytic anemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_08_018_01.pdf
rdfs:label "Xerocytosis with high phosphatiylcholine hemolytic anemia" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_08_018/
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has_notification_number "534" xsd:string
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hasExactSynonym "Hemoglobin C disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_08_018_01.pdf
rdfs:label "ヘモグロビンC症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_08_018/
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hasExactSynonym "haemolytic anaemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_09_019_01.pdf
rdfs:label "溶血性貧血" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_09_019/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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has_notification_number "535" xsd:string
dcterms:identifier "3000631" xsd:string
hasExactSynonym "haemolytic anaemia due to hypersplenism" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_09_019_01.pdf
rdfs:label "脾機能亢進症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_09_019/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000630
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has_notification_number "536" xsd:string
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hasExactSynonym "MAHA" @en
hasExactSynonym "microangiopathic haemolytic anaemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_10_020_01.pdf
rdfs:label "微小血管障害性溶血性貧血" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_10_020/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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has_notification_number "536" xsd:string
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hasExactSynonym "" @en
hasExactSynonym "DIC" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_10_020_01.pdf
rdfs:label "播種性血管内凝固" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_10_020/
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hasExactSynonym "" @en
hasExactSynonym "TTP" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_10_020_01.pdf
rdfs:label "血栓性血小板減少性紫斑病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_10_020/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000632
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019740
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has_notification_number "536" xsd:string
dcterms:identifier "3000635" xsd:string
hasExactSynonym "" @en
hasExactSynonym "SCT-TMA" @en
hasExactSynonym "stem cell transplant-associated microangiopathy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_10_020_01.pdf
rdfs:label "造血幹細胞移植後血栓性微小血管障害症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_10_020/
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "537" xsd:string
dcterms:identifier "3000636" xsd:string
hasExactSynonym "PV" @en
hasExactSynonym "polycythaemia vera" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_11_021_01.pdf
rdfs:label "真性多血症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_11_021/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009891
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has_notification_number "538" xsd:string
dcterms:identifier "3000637" xsd:string
hasExactSynonym "familial polycythaemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_12_022_01.pdf
rdfs:label "家族性赤血球増加症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_12_022/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "539" xsd:string
dcterms:identifier "3000638" xsd:string
hasExactSynonym "immune thrombocytopenic purpura" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_13_023_01.pdf
rdfs:label "免疫性血小板減少性紫斑病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_13_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008558
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "540" xsd:string
dcterms:identifier "3000639" xsd:string
hasExactSynonym "thrombocytopenic purpura" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_13_024_01.pdf
rdfs:label "23に掲げるもののほか、血小板減少性紫斑病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_13_024/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0043768
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "540" xsd:string
dcterms:identifier "3000640" xsd:string
hasExactSynonym "neonatal alloimmune thrombocytopenia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_13_024_01.pdf
rdfs:label "新生児同種免疫性血小板減少症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_13_024/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000639
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "540" xsd:string
dcterms:identifier "3000641" xsd:string
hasExactSynonym "Heparin-induced thrombocytopenia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_13_024_01.pdf
rdfs:label "へパリン起因性血小板減少症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_13_024/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000639
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018048
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "541" xsd:string
dcterms:identifier "3000642" xsd:string
hasExactSynonym "thrombotic thrombocytopenic purpura" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_14_025_01.pdf
rdfs:label "血栓性血小板減少性紫斑病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_14_025/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018896
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "542" xsd:string
dcterms:identifier "3000643" xsd:string
hasExactSynonym "thrombocytopenia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_15_026_01.pdf
rdfs:label "血小板減少症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_15_026/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002049
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "543" xsd:string
dcterms:identifier "3000644" xsd:string
hasExactSynonym "CAMT" @en
hasExactSynonym "Congenital amegakaryocytic thrombocytopenia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_16_027_01.pdf
rdfs:label "先天性無巨核球性血小板減少症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_16_027/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011469
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "544" xsd:string
dcterms:identifier "3000645" xsd:string
hasExactSynonym "Fanconi anaemia" @en
hasExactSynonym "Fanconi貧血" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_16_028_01.pdf
rdfs:label "ファンコニ貧血" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_16_028/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "545" xsd:string
dcterms:identifier "3000646" xsd:string
hasExactSynonym "cyclic thrombocytopenia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_17_029_01.pdf
rdfs:label "周期性血小板減少症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_17_029/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008556
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "546" xsd:string
dcterms:identifier "3000647" xsd:string
hasExactSynonym "May-Hegglin異常症" @ja
hasExactSynonym "May‐Hegglin anomaly" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_18_030_01.pdf
rdfs:label "メイ・ヘグリン異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_18_030/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007954
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015912
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "548" xsd:string
dcterms:identifier "3000648" xsd:string
hasExactSynonym "essential thrombocythaemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_20_031_01.pdf
rdfs:label "本態性血小板血症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_20_031/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005029
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "549" xsd:string
dcterms:identifier "3000649" xsd:string
hasExactSynonym "Bernard-Soulier syndrome" @en
hasExactSynonym "Bernard-Soulier症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_21_032_01.pdf
rdfs:label "ベルナール・スーリエ症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_21_032/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009276
http://nanbyodata.jp/ontology/nanbyo#3000650 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "550" xsd:string
dcterms:identifier "3000650" xsd:string
hasExactSynonym "thrombasthenia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_21_033_01.pdf
rdfs:label "血小板無力症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_21_033/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010119
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "551" xsd:string
dcterms:identifier "3000651" xsd:string
hasExactSynonym "Platelet secretion defects" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_21_034_01.pdf
rdfs:label "血小板放出機構異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_21_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000652 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "552" xsd:string
dcterms:identifier "3000652" xsd:string
hasExactSynonym "platelet dysfunction" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_21_035_01.pdf
rdfs:label "33から35までに掲げるもののほか、血小板機能異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_21_035/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000653 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "552" xsd:string
dcterms:identifier "3000653" xsd:string
hasExactSynonym "Congenital thrombocytopenia with radio- ulnar synostosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_21_035_01.pdf
rdfs:label "橈骨尺骨融合を伴う血小板減少症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_21_035/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000652
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "552" xsd:string
dcterms:identifier "3000654" xsd:string
hasExactSynonym "TAR 症候群" @ja
hasExactSynonym "Thrombocytopenia with absent radii" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_21_035_01.pdf
rdfs:label "橈骨欠損を伴う血小板減少症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_21_035/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000652
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010121
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "552" xsd:string
dcterms:identifier "3000655" xsd:string
hasExactSynonym "FPDMM" @en
hasExactSynonym "Familial platelet disorder with propensity to myeloid." @en
hasExactSynonym " Familial Platelet Disorder with Associated Myeloid Malignancy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_21_035_01.pdf
rdfs:label "骨髄悪性腫瘍傾向を伴う家族性血小板減少症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_21_035/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000652
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011071
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "552" xsd:string
dcterms:identifier "3000656" xsd:string
hasExactSynonym "Autosomal dominant thrombocytopenia, thrombocytopenia 2" @en
hasExactSynonym "THC2 " @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_21_035_01.pdf
rdfs:label "常染色体優性遺伝性血小板減少症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_21_035/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000652
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008555
http://nanbyodata.jp/ontology/nanbyo#3000657 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "552" xsd:string
dcterms:identifier "3000657" xsd:string
hasExactSynonym "ITGA2B/ITGB3 mutations" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_21_035_01.pdf
rdfs:label "GPIIb/IIIa異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_21_035/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000652
http://nanbyodata.jp/ontology/nanbyo#3000658 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "552" xsd:string
dcterms:identifier "3000658" xsd:string
hasExactSynonym "ACTN1 mutations" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_21_035_01.pdf
rdfs:label "αアクチニン1異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_21_035/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000652
http://nanbyodata.jp/ontology/nanbyo#3000659 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "552" xsd:string
dcterms:identifier "3000659" xsd:string
hasExactSynonym "Paris-trousseau/Jacobsen syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_21_035_01.pdf
rdfs:label "Paris-Trousseau/Jacobsen症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_21_035/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000652
http://nanbyodata.jp/ontology/nanbyo#3000660 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "552" xsd:string
dcterms:identifier "3000660" xsd:string
hasExactSynonym "platelet dysfunction" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_21_035_01.pdf
rdfs:label "β1 tubulin 異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_21_035/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000652
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hasExactSynonym "platenet-type von willebrand disease" @en
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hasExactSynonym "Abnormalities in platelet collagen receptors" @en
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hasExactSynonym "Scott syndrome" @en
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hasExactSynonym "afibrinogenaemia" @en
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hasExactSynonym "hypoprothrombinaemia" @en
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hasExactSynonym "factor V deficiency" @en
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hasExactSynonym "factor VII deficiency" @en
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hasExactSynonym "haemophilia A" @en
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rdfs:label "血友病A" @ja
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hasExactSynonym "haemophilia B" @en
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hasExactSynonym "factor X deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_22_042_01.pdf
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hasExactSynonym "factor XI deficiency" @en
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hasExactSynonym "factor XII deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_22_044_01.pdf
rdfs:label "第Ⅻ因子欠乏症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009315
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has_notification_number "562" xsd:string
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hasExactSynonym "factor XIII deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_22_045_01.pdf
rdfs:label "第XIII因子欠乏症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002241
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018029
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has_notification_number "563" xsd:string
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hasExactSynonym "VWD" @en
hasExactSynonym "Von Willebrand disease" @en
hasExactSynonym "von Willebrand病" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_22_046_01.pdf
rdfs:label "フォンウィルブランド病" @ja
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rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0024574
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "564" xsd:string
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hasExactSynonym "Other inherited bleeding disorder" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_22_047_01.pdf
rdfs:label "37から47までに掲げるもののほか、先天性血液凝固因子異常" @ja
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hasExactSynonym "congenital prekallikrein deficiency" @en
hasExactSynonym "prekallikrein deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_22_047_01.pdf
rdfs:label "先天性プレカリクレイン欠乏症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012901
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0044744
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has_notification_number "564" xsd:string
dcterms:identifier "3000678" xsd:string
hasExactSynonym "High molecular weight kininogen deficiency" @en
hasExactSynonym "congenital high molecular weight kininogen deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_22_047_01.pdf
rdfs:label "先天性高分子キニノゲン欠乏症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009234
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has_notification_number "564" xsd:string
dcterms:identifier "3000679" xsd:string
hasExactSynonym "Combined deficiency of coagulation factors V and VIII" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_22_047_01.pdf
rdfs:label "先天性第V+VIII因子合併欠乏症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_22_047/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000676
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has_notification_number "564" xsd:string
dcterms:identifier "3000680" xsd:string
hasExactSynonym "Alpha-2-plasmin inhibitor deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_22_047_01.pdf
rdfs:label "先天性α2-プラスミンインヒビター欠乏症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_22_047/
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009883
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has_notification_number "564" xsd:string
dcterms:identifier "3000681" xsd:string
hasExactSynonym "Congenital Plasminogen Activator Inhibitor-1 Deficiency" @en
hasExactSynonym "Plasminogen Activator Inhibitor-1 Deficiency " @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_22_047_01.pdf
rdfs:label "先天性プラスミノゲンアクチベータインヒビター1欠乏症" @ja
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rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000676
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has_notification_number "565" xsd:string
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hasExactSynonym "heritable thrombophilia" @en
hasExactSynonym "protein C deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_23_048_01.pdf
rdfs:label "先天性プロテインC欠乏症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_23_048/
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019145
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has_notification_number "566" xsd:string
dcterms:identifier "3000683" xsd:string
hasExactSynonym "heritable thrombophilia" @en
hasExactSynonym "protein S deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_24_049_01.pdf
rdfs:label "先天性プロテインS欠乏症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_24_049/
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002304
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has_notification_number "567" xsd:string
dcterms:identifier "3000684" xsd:string
hasExactSynonym "antithrombin deficiency" @en
hasExactSynonym "heritable thrombophilia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_25_050_01.pdf
rdfs:label "先天性アンチトロンビン欠乏症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_25_050/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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has_notification_number "569" xsd:string
dcterms:identifier "3000685" xsd:string
hasExactSynonym "myelofibrosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_27_051_01.pdf
rdfs:label "骨髄線維症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_27_051/
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009692
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0044903
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has_notification_number "570" xsd:string
dcterms:identifier "3000686" xsd:string
hasExactSynonym "aplastic anaemia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_09_28_052_01.pdf
rdfs:label "再生不良性貧血" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/09_28_052/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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has_notification_number "571" xsd:string
dcterms:identifier "3000687" xsd:string
hasExactSynonym "X-SCID" @en
hasExactSynonym "X-linked severe combined immunodeficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_01_001_01.pdf
rdfs:label "X連鎖重症複合免疫不全症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_01_001/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010315
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "572" xsd:string
dcterms:identifier "3000688" xsd:string
hasExactSynonym "reticular dysgenesis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_01_002_01.pdf
rdfs:label "細網異形成症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_01_002/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009973
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has_notification_number "573" xsd:string
dcterms:identifier "3000689" xsd:string
hasExactSynonym "ADA deficiency" @en
hasExactSynonym "ADA欠損症" @ja
hasExactSynonym "adenosine deaminase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_01_003_01.pdf
rdfs:label "アデノシンデアミナーゼ欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_01_003/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007064
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has_notification_number "574" xsd:string
dcterms:identifier "3000690" xsd:string
hasExactSynonym "Omenn syndrome" @en
hasExactSynonym "Omenn症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_01_004_01.pdf
rdfs:label "オーメン症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_01_004/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011338
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has_notification_number "575" xsd:string
dcterms:identifier "3000691" xsd:string
hasExactSynonym "purine nucleoside phosphorylase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_01_005_01.pdf
rdfs:label "プリンヌクレオシドホスホリラーゼ欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_01_005/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0013171
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "576" xsd:string
dcterms:identifier "3000692" xsd:string
hasExactSynonym "CD8 deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_01_006_01.pdf
rdfs:label "CD8欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_01_006/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "577" xsd:string
dcterms:identifier "3000693" xsd:string
hasExactSynonym "ZAP-70 deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_01_007_01.pdf
rdfs:label "ZAP-70欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_01_007/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010023
http://nanbyodata.jp/ontology/nanbyo#3000694 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "578" xsd:string
dcterms:identifier "3000694" xsd:string
hasExactSynonym "major histocompatibility complex class I deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_01_008_01.pdf
rdfs:label "MHCクラスⅠ欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_01_008/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000695 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "579" xsd:string
dcterms:identifier "3000695" xsd:string
hasExactSynonym "major histocompatibility complex class II deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_01_009_01.pdf
rdfs:label "MHCクラスⅡ欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_01_009/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000696 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "580" xsd:string
dcterms:identifier "3000696" xsd:string
hasExactSynonym "Other combined immunodeficiencies" @en
hasExactSynonym "combined immunodeficiencies" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_01_010_01.pdf
rdfs:label "1から9までに掲げるもののほか、複合免疫不全症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_01_010/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000697 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "581" xsd:string
dcterms:identifier "3000697" xsd:string
hasExactSynonym "Wiskott-Aldrich syndrome" @en
hasExactSynonym "Wiskott-Aldrich症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_02_011_01.pdf
rdfs:label "ウィスコット・オルドリッチ症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_02_011/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010518
http://nanbyodata.jp/ontology/nanbyo#3000698 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "582" xsd:string
dcterms:identifier "3000698" xsd:string
hasExactSynonym "ataxia telangiectasia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_02_012_01.pdf
rdfs:label "毛細血管拡張性運動失調症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_02_012/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
http://nanbyodata.jp/ontology/nanbyo#3000699 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "583" xsd:string
dcterms:identifier "3000699" xsd:string
hasExactSynonym "Nijmegen breakage syndrome" @en
hasExactSynonym "Nijmegen染色体不安定症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_02_013_01.pdf
rdfs:label "ナイミーヘン染色体不安定症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_02_013/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009623
http://nanbyodata.jp/ontology/nanbyo#3000700 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "584" xsd:string
dcterms:identifier "3000700" xsd:string
hasExactSynonym "Bloom syndrome" @en
hasExactSynonym "Bloom症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_02_014_01.pdf
rdfs:label "ブルーム症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_02_014/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008876
http://nanbyodata.jp/ontology/nanbyo#3000701 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "585" xsd:string
dcterms:identifier "3000701" xsd:string
hasExactSynonym "ICF syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_02_015_01.pdf
rdfs:label "ICF症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_02_015/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000133
http://nanbyodata.jp/ontology/nanbyo#3000702 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "586" xsd:string
dcterms:identifier "3000702" xsd:string
hasExactSynonym "PMS2 deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_02_016_01.pdf
rdfs:label "PMS2異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_02_016/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000703 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "587" xsd:string
dcterms:identifier "3000703" xsd:string
hasExactSynonym "RIDDLE syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_02_017_01.pdf
rdfs:label "RIDDLE症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_02_017/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012764
http://nanbyodata.jp/ontology/nanbyo#3000704 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "588" xsd:string
dcterms:identifier "3000704" xsd:string
hasExactSynonym "Schimke syndrome" @en
hasExactSynonym "Schimke症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_02_018_01.pdf
rdfs:label "シムケ症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_02_018/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009458
http://nanbyodata.jp/ontology/nanbyo#3000705 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "589" xsd:string
dcterms:identifier "3000705" xsd:string
hasExactSynonym "22q11.2 deletion syndrome" @en
hasExactSynonym "22q11.2欠失症候群" @ja
hasExactSynonym "DiGeorge syndrome" @en
hasExactSynonym "thymus hypoplasia" @en
hasExactSynonym "ディ・ジョージ症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_02_019_01.pdf
rdfs:label "胸腺低形成" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_02_019/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008564
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018923
http://nanbyodata.jp/ontology/nanbyo#3000706 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "590" xsd:string
dcterms:identifier "3000706" xsd:string
hasExactSynonym "hyper-IgE syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_02_020_01.pdf
rdfs:label "高IgE症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_02_020/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018037
http://nanbyodata.jp/ontology/nanbyo#3000707 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "591" xsd:string
dcterms:identifier "3000707" xsd:string
hasExactSynonym "hepatic venoocclusive immunodeficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_02_021_01.pdf
rdfs:label "肝中心静脈閉鎖症を伴う免疫不全症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_02_021/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009338
http://nanbyodata.jp/ontology/nanbyo#3000708 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "592" xsd:string
dcterms:identifier "3000708" xsd:string
hasExactSynonym "dyskeratosis congenita" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_02_022_01.pdf
rdfs:label "先天性角化異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_02_022/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015780
http://nanbyodata.jp/ontology/nanbyo#3000709 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "593" xsd:string
dcterms:identifier "3000709" xsd:string
hasExactSynonym "X-linked agammaglobulinaemia" @en
hasExactSynonym "XLA" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_03_023_01.pdf
rdfs:label "X連鎖無ガンマグロブリン血症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_03_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010421
http://nanbyodata.jp/ontology/nanbyo#3000710 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "594" xsd:string
dcterms:identifier "3000710" xsd:string
hasExactSynonym "CVID" @en
hasExactSynonym "common variable immunodeficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_03_024_01.pdf
rdfs:label "分類不能型免疫不全症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_03_024/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012908
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015517
http://nanbyodata.jp/ontology/nanbyo#3000711 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "595" xsd:string
dcterms:identifier "3000711" xsd:string
hasExactSynonym "Hyper-IgM syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_03_025_01.pdf
rdfs:label "高IgM症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_03_025/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0003947
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010626
http://nanbyodata.jp/ontology/nanbyo#3000712 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "596" xsd:string
dcterms:identifier "3000712" xsd:string
hasExactSynonym "Isolated IgG subclass deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_03_026_01.pdf
rdfs:label "IgGサブクラス欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_03_026/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000713 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "597" xsd:string
dcterms:identifier "3000713" xsd:string
hasExactSynonym "Selective IgA deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_03_027_01.pdf
rdfs:label "選択的IgA欠損" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_03_027/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0001341
http://nanbyodata.jp/ontology/nanbyo#3000714 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "598" xsd:string
dcterms:identifier "3000714" xsd:string
hasExactSynonym "Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_03_028_01.pdf
rdfs:label "特異抗体産生不全症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_03_028/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000715 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "599" xsd:string
dcterms:identifier "3000715" xsd:string
hasExactSynonym "Transient hypogammaglobulinaemia of infancy with normal numbers of B cells" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_03_029_01.pdf
rdfs:label "乳児一過性低ガンマグロブリン血症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_03_029/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000716 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "600" xsd:string
dcterms:identifier "3000716" xsd:string
hasExactSynonym "Other predominantly antibody deficiencies" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_03_030_01.pdf
rdfs:label "23から29までに掲げるもののほか、液性免疫不全を主とする疾患" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_03_030/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000717 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "601" xsd:string
dcterms:identifier "3000717" xsd:string
hasExactSynonym "CHS" @en
hasExactSynonym "Chediak-Higashi syndrome" @en
hasExactSynonym "Chediak-Higashi症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_04_031_01.pdf
rdfs:label "チェディアック・東症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_04_031/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008963
http://nanbyodata.jp/ontology/nanbyo#3000718 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "602" xsd:string
dcterms:identifier "3000718" xsd:string
hasExactSynonym "X-linked lymphoproliferative syndrome" @en
hasExactSynonym "XLP" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_04_032_01.pdf
rdfs:label "X連鎖リンパ増殖症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_04_032/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010420
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010627
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0024551
http://nanbyodata.jp/ontology/nanbyo#3000719 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "603" xsd:string
dcterms:identifier "3000719" xsd:string
hasExactSynonym "ALPS" @en
hasExactSynonym "ALPS" @ja
hasExactSynonym "autoimmune lymphoproliferative syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_04_033_01.pdf
rdfs:label "自己免疫性リンパ増殖症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_04_033/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011158
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017979
http://nanbyodata.jp/ontology/nanbyo#3000720 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "604" xsd:string
dcterms:identifier "3000720" xsd:string
hasExactSynonym "Other diseases of immune dysregulation" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label "31から33までに掲げるもののほか、免疫調節障害" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000721 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "604" xsd:string
dcterms:identifier "3000721" xsd:string
hasExactSynonym "FHL2" @en
hasExactSynonym "familial hemophagocytic lymphohistiocytosis 2" @en
hasExactSynonym "perforin deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label "パーフォリン欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000720
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011337
http://nanbyodata.jp/ontology/nanbyo#3000722 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "604" xsd:string
dcterms:identifier "3000722" xsd:string
hasExactSynonym "FHL3" @en
hasExactSynonym "familial hemophagocytic lymphohistiocytosis 3" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label "UNC13D/Munc13-4欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000720
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012146
http://nanbyodata.jp/ontology/nanbyo#3000723 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "604" xsd:string
dcterms:identifier "3000723" xsd:string
hasExactSynonym "FHL4" @en
hasExactSynonym "familial hemophagocytic lymphohistiocytosis 4" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label "Syntaxin11欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000720
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011336
http://nanbyodata.jp/ontology/nanbyo#3000724 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "604" xsd:string
dcterms:identifier "3000724" xsd:string
hasExactSynonym "FHL5" @en
hasExactSynonym "familial hemophagocytic lymphohistiocytosis 5" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label "STXBP2/Munc18-2欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000720
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0013135
http://nanbyodata.jp/ontology/nanbyo#3000725 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "604" xsd:string
dcterms:identifier "3000725" xsd:string
hasExactSynonym "Griscelli syndrome type 2" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label "Gricelli症候群2型" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000720
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011872
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "604" xsd:string
dcterms:identifier "3000726" xsd:string
hasExactSynonym "HPS-2" @en
hasExactSynonym "Hermansky-Pudlak syndrome type 2" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label "Hermansky-Pudlak症候群2型" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000720
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011997
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "604" xsd:string
dcterms:identifier "3000727" xsd:string
hasExactSynonym "IL-2-inducible T-cell kinase deficiency" @en
hasExactSynonym "ITK deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label "ITK欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000720
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0013081
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "604" xsd:string
dcterms:identifier "3000728" xsd:string
hasExactSynonym "CD27 deficiency" @en
hasExactSynonym "Combined immunodeficiency due to CD27 deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label "CD27欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000720
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0014054
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016536
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "604" xsd:string
dcterms:identifier "3000729" xsd:string
hasExactSynonym "Immunodeficiency 41 with lymphoproliferation and autoimmunity" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label "CD25欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000720
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "604" xsd:string
dcterms:identifier "3000730" xsd:string
hasExactSynonym "Growth hormone insensitivity with immunodeficiency" @en
hasExactSynonym "STAT5b deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label "STAT5b欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000720
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009510
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "604" xsd:string
dcterms:identifier "3000731" xsd:string
hasExactSynonym "APECED" @en
hasExactSynonym "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label "自己免疫性多腺性内分泌不全症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000720
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009411
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "604" xsd:string
dcterms:identifier "3000732" xsd:string
hasExactSynonym "ITCH E3 ubiquitin ligase deficiency" @en
hasExactSynonym "Syndromic multisystem autoimmune disease due to Itch deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label "ITCH欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000720
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0013245
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "604" xsd:string
dcterms:identifier "3000733" xsd:string
hasExactSynonym "ALPS2B" @en
hasExactSynonym "Caspase-8 deficiency" @en
hasExactSynonym "autoimmune lymphoproliferative syndrome type 2B" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label "カスペース8欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000720
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011804
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "604" xsd:string
dcterms:identifier "3000734" xsd:string
hasExactSynonym "FADD-related immunodeficiency" @en
hasExactSynonym "FADD deficiency" @en
hasExactSynonym "Fas-associated death domain protein deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label "FADD欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000720
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0013408
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "604" xsd:string
dcterms:identifier "3000735" xsd:string
hasExactSynonym "CARD11 gain-of-function mutations" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label "CARD11機能獲得型変異" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000720
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "604" xsd:string
dcterms:identifier "3000736" xsd:string
hasExactSynonym "ALPS3" @en
hasExactSynonym "CVID9" @en
hasExactSynonym "PKCδ deficiency" @en
hasExactSynonym "PKCδ欠損症" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label "PRKCδ欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000720
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0014253
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "604" xsd:string
dcterms:identifier "3000737" xsd:string
hasExactSynonym "SPENCDI" @en
hasExactSynonym "Spondylo enchondro-dysplasiawith immune dysregulation" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_04_034_01.pdf
rdfs:label "SPENCDI" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_04_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000720
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011939
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "605" xsd:string
dcterms:identifier "3000738" xsd:string
hasExactSynonym "severe congenital neutropenia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_05_035_01.pdf
rdfs:label "重症先天性好中球減少症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_05_035/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018542
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "606" xsd:string
dcterms:identifier "3000739" xsd:string
hasExactSynonym "cyclic neutropenia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_05_036_01.pdf
rdfs:label "周期性好中球減少症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_05_036/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008090
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "607" xsd:string
dcterms:identifier "3000740" xsd:string
hasExactSynonym "Other congenital defects of neutrophil function" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_05_037_01.pdf
rdfs:label "35及び36に掲げるもののほか、慢性の経過をたどる好中球減少症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_05_037/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "607" xsd:string
dcterms:identifier "3000741" xsd:string
hasExactSynonym "AIN " @en
hasExactSynonym "autoimmune neutropenia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_05_037_01.pdf
rdfs:label "自己免疫性好中球減少症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_05_037/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000740
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "607" xsd:string
dcterms:identifier "3000742" xsd:string
hasExactSynonym "Clericuzio-type poikiloderma with neutropenia syndrome" @en
hasExactSynonym "PN" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_05_037_01.pdf
rdfs:label "好中球減少を伴うClericuzio型多形皮膚萎縮症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_05_037/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000740
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011405
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "607" xsd:string
dcterms:identifier "3000743" xsd:string
hasExactSynonym "cohen syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_05_037_01.pdf
rdfs:label "Cohen症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_05_037/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000740
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008999
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "607" xsd:string
dcterms:identifier "3000744" xsd:string
hasExactSynonym "Bart syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_05_037_01.pdf
rdfs:label "Barth症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_05_037/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000740
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "607" xsd:string
dcterms:identifier "3000745" xsd:string
hasExactSynonym "P14 deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_05_037_01.pdf
rdfs:label "P14欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_05_037/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000740
http://nanbyodata.jp/ontology/nanbyo#3000746 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "607" xsd:string
dcterms:identifier "3000746" xsd:string
hasExactSynonym "X linked severe congenital neutropenia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_05_037_01.pdf
rdfs:label "X連鎖好中球減少症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_05_037/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000740
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010294
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "607" xsd:string
dcterms:identifier "3000747" xsd:string
hasExactSynonym "Glycogen storage disease type 1B" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_05_037_01.pdf
rdfs:label "糖原病1b型" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_05_037/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000740
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009288
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "608" xsd:string
dcterms:identifier "3000748" xsd:string
hasExactSynonym "LAD" @en
hasExactSynonym "leukocyte adhesion deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_05_038_01.pdf
rdfs:label "白血球接着不全症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_05_038/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007293
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017570
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "609" xsd:string
dcterms:identifier "3000749" xsd:string
hasExactSynonym "SDS" @en
hasExactSynonym "Shwachman-Diamond syndrome" @en
hasExactSynonym "Shwachman-Diamond症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_05_039_01.pdf
rdfs:label "シュワッハマン・ダイアモンド症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_05_039/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009833
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0044204
http://nanbyodata.jp/ontology/nanbyo#3000750 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "610" xsd:string
dcterms:identifier "3000750" xsd:string
hasExactSynonym "CGD" @en
hasExactSynonym "Chronic granulomatous disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_05_040_01.pdf
rdfs:label "慢性肉芽腫症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_05_040/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010600
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018305
http://nanbyodata.jp/ontology/nanbyo#3000751 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "611" xsd:string
dcterms:identifier "3000751" xsd:string
hasExactSynonym "myeloperoxidase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_05_041_01.pdf
rdfs:label "ミエロペルオキシダーゼ欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_05_041/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009694
http://nanbyodata.jp/ontology/nanbyo#3000752 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "612" xsd:string
dcterms:identifier "3000752" xsd:string
hasExactSynonym "MSMD" @en
hasExactSynonym "Mendelian susceptibility to mycobacterial disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_05_042_01.pdf
rdfs:label "メンデル遺伝型マイコバクテリア易感染症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_05_042/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000753 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "613" xsd:string
dcterms:identifier "3000753" xsd:string
hasExactSynonym "Other congenital defects of phagocyte function" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_05_043_01.pdf
rdfs:label "38から42までに掲げるもののほか、白血球機能異常" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_05_043/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000754 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "614" xsd:string
dcterms:identifier "3000754" xsd:string
hasExactSynonym "Anhidrotic ectodermal dysplasia with immunodeficiency" @en
hasExactSynonym "EDA-ID" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_06_044_01.pdf
rdfs:label "免疫不全を伴う無汗性外胚葉形成異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_06_044/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010293
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020740
http://nanbyodata.jp/ontology/nanbyo#3000755 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "615" xsd:string
dcterms:identifier "3000755" xsd:string
hasExactSynonym "IRAK4 deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_06_045_01.pdf
rdfs:label "IRAK4欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_06_045/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000756 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "616" xsd:string
dcterms:identifier "3000756" xsd:string
hasExactSynonym "MyD88 deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_06_046_01.pdf
rdfs:label "MyD88欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_06_046/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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has_notification_number "617" xsd:string
dcterms:identifier "3000757" xsd:string
hasExactSynonym "CMC" @en
hasExactSynonym "chronic mucocutaneous candidiasis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_06_047_01.pdf
rdfs:label "慢性皮膚粘膜カンジダ症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_06_047/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008094
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015279
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has_notification_number "618" xsd:string
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hasExactSynonym "Other defects in innate immunity" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf
rdfs:label "44から47までに掲げるもののほか、自然免疫異常" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_06_048/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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has_notification_number "618" xsd:string
dcterms:identifier "3000759" xsd:string
hasExactSynonym "HOIL-1 deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf
rdfs:label "HOIL1欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_06_048/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000758
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has_notification_number "618" xsd:string
dcterms:identifier "3000760" xsd:string
hasExactSynonym " and myelokathexis" @en
hasExactSynonym "WHIM syndrome" @en
hasExactSynonym "Warts" @en
hasExactSynonym " hypogammaglobulinemia" @en
hasExactSynonym " infections" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf
rdfs:label "WHIM症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_06_048/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000758
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008674
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015977
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016463
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "618" xsd:string
dcterms:identifier "3000761" xsd:string
hasExactSynonym "Epidermodysplasia verruciformis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf
rdfs:label "疣贅状表皮発育異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_06_048/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000758
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009176
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "618" xsd:string
dcterms:identifier "3000762" xsd:string
hasExactSynonym "STAT2 deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf
rdfs:label "STAT2欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_06_048/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000758
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "618" xsd:string
dcterms:identifier "3000763" xsd:string
hasExactSynonym "MCM4 mutation" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf
rdfs:label "MCM4遺伝子異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_06_048/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000758
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "618" xsd:string
dcterms:identifier "3000764" xsd:string
hasExactSynonym "Herpes simplex encephalitis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf
rdfs:label "単純ヘルペス脳炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_06_048/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000758
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012521
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "618" xsd:string
dcterms:identifier "3000765" xsd:string
hasExactSynonym "CARD9 deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf
rdfs:label "CARD9欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_06_048/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000758
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008905
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has_notification_number "618" xsd:string
dcterms:identifier "3000766" xsd:string
hasExactSynonym "Trypanosomiasis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf
rdfs:label "トリパノソーマ感染症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_06_048/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000758
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000940
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has_notification_number "618" xsd:string
dcterms:identifier "3000767" xsd:string
hasExactSynonym "Isolated congenital asplenia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_06_048_01.pdf
rdfs:label "孤立性先天性無脾症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_06_048/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000758
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has_notification_number "619" xsd:string
dcterms:identifier "3000768" xsd:string
hasExactSynonym "inherited deficiency of complement system" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label "先天性補体欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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has_notification_number "619" xsd:string
dcterms:identifier "3000769" xsd:string
hasExactSynonym "C1q deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label "C1q 欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000768
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0013343
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has_notification_number "619" xsd:string
dcterms:identifier "3000770" xsd:string
hasExactSynonym "C1r deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label "C1r 欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000768
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has_notification_number "619" xsd:string
dcterms:identifier "3000771" xsd:string
hasExactSynonym "C1s deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label "C1s 欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000768
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0013419
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "619" xsd:string
dcterms:identifier "3000772" xsd:string
hasExactSynonym "C4 deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label "C4 欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000768
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "619" xsd:string
dcterms:identifier "3000773" xsd:string
hasExactSynonym "C2 deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label "C2 欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000768
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009006
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "619" xsd:string
dcterms:identifier "3000774" xsd:string
hasExactSynonym "C3 deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label "C3 欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000768
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0013417
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "619" xsd:string
dcterms:identifier "3000775" xsd:string
hasExactSynonym "C5 deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label "C5 欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000768
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012295
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "619" xsd:string
dcterms:identifier "3000776" xsd:string
hasExactSynonym "C6 deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label "C6 欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000768
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012908
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "619" xsd:string
dcterms:identifier "3000777" xsd:string
hasExactSynonym "C7 deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label "C7 欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000768
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012412
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "619" xsd:string
dcterms:identifier "3000778" xsd:string
hasExactSynonym "C8 deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label "C8 欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000768
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "619" xsd:string
dcterms:identifier "3000779" xsd:string
hasExactSynonym "C9 deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label "C9 欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000768
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0013445
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "619" xsd:string
dcterms:identifier "3000780" xsd:string
hasExactSynonym "D因子欠損症" @ja
hasExactSynonym "Factor D deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label "Factor D 欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000768
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0013487
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "619" xsd:string
dcterms:identifier "3000781" xsd:string
hasExactSynonym "Properdin deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label "Properdin 欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000768
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010713
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "619" xsd:string
dcterms:identifier "3000782" xsd:string
hasExactSynonym "Factor I deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label "Factor I 欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000768
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008737
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "619" xsd:string
dcterms:identifier "3000783" xsd:string
hasExactSynonym "Factor H deficiency" @en
hasExactSynonym "H因子欠損症" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label "Factor H 欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000768
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012350
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "619" xsd:string
dcterms:identifier "3000784" xsd:string
hasExactSynonym "3MC syndrome" @en
hasExactSynonym "Malpuech-Michels-Mingarelli-Carnevale syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label "3MC 症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000768
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017398
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "619" xsd:string
dcterms:identifier "3000785" xsd:string
hasExactSynonym "MASP2 deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label "MASP2 欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000768
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0013423
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "619" xsd:string
dcterms:identifier "3000786" xsd:string
hasExactSynonym "Ficolin 3 Deficiency" @en
hasExactSynonym "Ficolin3欠損症" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_07_049_01.pdf
rdfs:label "Ficolin3 関連免疫不全症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_07_049/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000768
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0013467
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "620" xsd:string
dcterms:identifier "3000787" xsd:string
hasExactSynonym "C1 inhibitor deficiency" @en
hasExactSynonym "C1インヒビター欠損症" @ja
hasExactSynonym "hereditary angioedema" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_07_050_01.pdf
rdfs:label "遺伝性血管性浮腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_07_050/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007361
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019623
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "621" xsd:string
dcterms:identifier "3000788" xsd:string
hasExactSynonym "inherited deficiency of complement system" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_07_051_01.pdf
rdfs:label "49及び50に掲げるもののほか、先天性補体欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_07_051/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "621" xsd:string
dcterms:identifier "3000789" xsd:string
hasExactSynonym "Factor B deficiency" @en
hasExactSynonym "Factor B欠損症" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_07_051_01.pdf
rdfs:label "B因子欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_07_051/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000788
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "621" xsd:string
dcterms:identifier "3000790" xsd:string
hasExactSynonym "Factor I deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_07_051_01.pdf
rdfs:label "Factor I欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_07_051/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000788
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008737
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "621" xsd:string
dcterms:identifier "3000791" xsd:string
hasExactSynonym "complement factor H related protein 1 deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_07_051_01.pdf
rdfs:label "Factor H-related protein欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_07_051/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000788
http://nanbyodata.jp/ontology/nanbyo#3000792 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "621" xsd:string
dcterms:identifier "3000792" xsd:string
hasExactSynonym "Thrombomodulin deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_07_051_01.pdf
rdfs:label "Thrombomodulin欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_07_051/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000788
http://nanbyodata.jp/ontology/nanbyo#3000793 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "621" xsd:string
dcterms:identifier "3000793" xsd:string
hasExactSynonym "CD21 deficiency" @en
hasExactSynonym "CD21欠損症" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_07_051_01.pdf
rdfs:label "CR2欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_07_051/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000788
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "621" xsd:string
dcterms:identifier "3000794" xsd:string
hasExactSynonym "CR3 deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_07_051_01.pdf
rdfs:label "CR3欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_07_051/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000788
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "621" xsd:string
dcterms:identifier "3000795" xsd:string
hasExactSynonym "CD46 deficiency" @en
hasExactSynonym "Membrane cofactor protein 欠損症" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_07_051_01.pdf
rdfs:label "CD46欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_07_051/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000788
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "621" xsd:string
dcterms:identifier "3000796" xsd:string
hasExactSynonym "Membrane attack complex inhibitor欠損症" @ja
hasExactSynonym "Primary CD59 deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_07_051_01.pdf
rdfs:label "CD59欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_07_051/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000788
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012858
http://nanbyodata.jp/ontology/nanbyo#3000797 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "622" xsd:string
dcterms:identifier "3000797" xsd:string
hasExactSynonym "hyper eosinophilic syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_08_052_01.pdf
rdfs:label "好酸球増加症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_08_052/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015691
http://nanbyodata.jp/ontology/nanbyo#3000798 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "623" xsd:string
dcterms:identifier "3000798" xsd:string
hasExactSynonym "CAEBV" @en
hasExactSynonym "chronic active EB virus infection" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_09_053_01.pdf
rdfs:label "慢性活動性EBウイルス感染症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_09_053/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009194
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "624" xsd:string
dcterms:identifier "3000799" xsd:string
hasExactSynonym "acquired immune deficiency syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_10_054_01.pdf
rdfs:label "後天性免疫不全症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_10_054/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0012268
http://nanbyodata.jp/ontology/nanbyo#3000800 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "625" xsd:string
dcterms:identifier "3000800" xsd:string
hasExactSynonym "Phenocopies of primary immunodeficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_10_055_01.pdf
rdfs:label "後天的な免疫系障害による免疫不全症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_10_055/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000801 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "626" xsd:string
dcterms:identifier "3000801" xsd:string
hasExactSynonym "chronic GVHD" @en
hasExactSynonym "chronic graft-versus-host disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_10_11_056_01.pdf
rdfs:label "慢性移植片対宿主病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/10_11_056/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020547
http://nanbyodata.jp/ontology/nanbyo#3000802 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "627" xsd:string
dcterms:identifier "3000802" xsd:string
hasExactSynonym "meningoencephalocele" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_01_001_01.pdf
rdfs:label "髄膜脳瘤" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_01_001/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017079
http://nanbyodata.jp/ontology/nanbyo#3000803 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "628" xsd:string
dcterms:identifier "3000803" xsd:string
hasExactSynonym "myelomeningocele" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_01_002_01.pdf
rdfs:label "脊髄髄膜瘤" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_01_002/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017069
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019773
http://nanbyodata.jp/ontology/nanbyo#3000804 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "629" xsd:string
dcterms:identifier "3000804" xsd:string
hasExactSynonym "Spinal lipoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_01_003_01.pdf
rdfs:label "脊髄脂肪腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_01_003/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000805 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "630" xsd:string
dcterms:identifier "3000805" xsd:string
hasExactSynonym "sacrococcygeal teratoma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_02_004_01.pdf
rdfs:label "仙尾部奇形腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_02_004/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0042727
http://nanbyodata.jp/ontology/nanbyo#3000806 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "631" xsd:string
dcterms:identifier "3000806" xsd:string
hasExactSynonym "lissencephaly" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_03_005_01.pdf
rdfs:label "滑脳症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_03_005/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018838
http://nanbyodata.jp/ontology/nanbyo#3000807 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "632" xsd:string
dcterms:identifier "3000807" xsd:string
hasExactSynonym "schizencephaly" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_03_006_01.pdf
rdfs:label "裂脳症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_03_006/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010011
http://nanbyodata.jp/ontology/nanbyo#3000808 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "633" xsd:string
dcterms:identifier "3000808" xsd:string
hasExactSynonym "holoprosencephaly" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_03_007_01.pdf
rdfs:label "全前脳胞症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_03_007/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016296
http://nanbyodata.jp/ontology/nanbyo#3000809 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "634" xsd:string
dcterms:identifier "3000809" xsd:string
hasExactSynonym "De Morsier syndrome" @en
hasExactSynonym "septo-optic dysplasia" @en
hasExactSynonym "ドモルシア症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_03_008_01.pdf
rdfs:label "中隔視神経形成異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_03_008/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008428
http://nanbyodata.jp/ontology/nanbyo#3000810 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "635" xsd:string
dcterms:identifier "3000810" xsd:string
hasExactSynonym "Dandy-Walker syndrome" @en
hasExactSynonym "Dandy-Walker症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_03_009_01.pdf
rdfs:label "ダンディー・ウォーカー症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_03_009/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009072
http://nanbyodata.jp/ontology/nanbyo#3000811 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "636" xsd:string
dcterms:identifier "3000811" xsd:string
hasExactSynonym "congenital hydrocephalus" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_03_010_01.pdf
rdfs:label "先天性水頭症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_03_010/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016349
http://nanbyodata.jp/ontology/nanbyo#3000812 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "637" xsd:string
dcterms:identifier "3000812" xsd:string
hasExactSynonym "Megalencephaly-capillary malformation syndrome" @en
hasExactSynonym "Megalencephaly-capillary malformation-polymicrogyria" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_03_011_01.pdf
rdfs:label "巨脳症-毛細血管奇形症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_03_011/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011240
http://nanbyodata.jp/ontology/nanbyo#3000813 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "638" xsd:string
dcterms:identifier "3000813" xsd:string
hasExactSynonym "Joubert syndrome related disorders" @en
hasExactSynonym "Joubert症候群関連疾患" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_04_012_01.pdf
rdfs:label "ジュベール症候群関連疾患" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_04_012/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000814 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "639" xsd:string
dcterms:identifier "3000814" xsd:string
hasExactSynonym "Rett syndrome" @en
hasExactSynonym "Rett症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_05_013_01.pdf
rdfs:label "レット症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_05_013/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010726
http://nanbyodata.jp/ontology/nanbyo#3000815 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "640" xsd:string
dcterms:identifier "3000815" xsd:string
hasExactSynonym "TSC" @en
hasExactSynonym "tuberous sclerosis complex" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_06_014_01.pdf
rdfs:label "結節性硬化症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_06_014/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0001734
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008612
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019341
http://nanbyodata.jp/ontology/nanbyo#3000816 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "641" xsd:string
dcterms:identifier "3000816" xsd:string
hasExactSynonym "neurocutaneous melanosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_06_015_01.pdf
rdfs:label "神経皮膚黒色症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_06_015/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009578
http://nanbyodata.jp/ontology/nanbyo#3000817 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "642" xsd:string
dcterms:identifier "3000817" xsd:string
hasExactSynonym "Gorlin syndrome" @en
hasExactSynonym "Gorlin症候群" @ja
hasExactSynonym "basal cell nevus syndrome" @en
hasExactSynonym "基底細胞母斑症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_06_016_01.pdf
rdfs:label "ゴーリン症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_06_016/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007187
http://nanbyodata.jp/ontology/nanbyo#3000818 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "643" xsd:string
dcterms:identifier "3000818" xsd:string
hasExactSynonym "von Hippel-Lindau disease" @en
hasExactSynonym "von Hippel-Lindau病" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_06_017_01.pdf
rdfs:label "フォンヒッペル・リンドウ病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_06_017/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008667
http://nanbyodata.jp/ontology/nanbyo#3000819 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "644" xsd:string
dcterms:identifier "3000819" xsd:string
hasExactSynonym "Sturge-Weber syndrome" @en
hasExactSynonym "Sturge-Weber症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_06_018_01.pdf
rdfs:label "スタージ・ウェーバー症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_06_018/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008501
http://nanbyodata.jp/ontology/nanbyo#3000820 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "645" xsd:string
dcterms:identifier "3000820" xsd:string
hasExactSynonym "Werner syndrome" @en
hasExactSynonym "Werner症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_07_019_01.pdf
rdfs:label "ウェルナー症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_07_019/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010196
http://nanbyodata.jp/ontology/nanbyo#3000821 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "646" xsd:string
dcterms:identifier "3000821" xsd:string
hasExactSynonym "Cockayne syndrome" @en
hasExactSynonym "Cockayne症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_07_020_01.pdf
rdfs:label "コケイン症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_07_020/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016006
http://nanbyodata.jp/ontology/nanbyo#3000822 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "647" xsd:string
dcterms:identifier "3000822" xsd:string
hasExactSynonym "HGPS" @en
hasExactSynonym "Hutchinson-Gilford progeria syndrome" @en
hasExactSynonym "Hutchinson-Gilford syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_07_021_01.pdf
rdfs:label "ハッチンソン・ギルフォード症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_07_021/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008310
http://nanbyodata.jp/ontology/nanbyo#3000823 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "648" xsd:string
dcterms:identifier "3000823" xsd:string
hasExactSynonym "Canavan disease" @en
hasExactSynonym "Canavan病" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_08_022_01.pdf
rdfs:label "カナバン病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_08_022/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010079
http://nanbyodata.jp/ontology/nanbyo#3000824 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "649" xsd:string
dcterms:identifier "3000824" xsd:string
hasExactSynonym "Alexander disease" @en
hasExactSynonym "Alexander病" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_08_023_01.pdf
rdfs:label "アレキサンダー病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_08_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008752
http://nanbyodata.jp/ontology/nanbyo#3000825 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "650" xsd:string
dcterms:identifier "3000825" xsd:string
hasExactSynonym "congenital hypomyelinating leukodystrophy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_08_024_01.pdf
rdfs:label "先天性大脳白質形成不全症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_08_024/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000826 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "651" xsd:string
dcterms:identifier "3000826" xsd:string
hasExactSynonym "megaloencephalic leukoencephalopathy with subcortical cysts" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_08_025_01.pdf
rdfs:label "皮質下嚢胞をもつ大頭型白質脳症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_08_025/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000827 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "652" xsd:string
dcterms:identifier "3000827" xsd:string
hasExactSynonym "vanishing white matter disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_08_026_01.pdf
rdfs:label "白質消失病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_08_026/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011380
http://nanbyodata.jp/ontology/nanbyo#3000828 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "653" xsd:string
dcterms:identifier "3000828" xsd:string
hasExactSynonym "ATR-X syndrome, X-linked a-thalassemia/intellectual disability syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_09_027_01.pdf
rdfs:label "ATR-X症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_09_027/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000829 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "654" xsd:string
dcterms:identifier "3000829" xsd:string
hasExactSynonym "Fragile X syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_10_028_01.pdf
rdfs:label "脆弱X症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_10_028/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010383
http://nanbyodata.jp/ontology/nanbyo#3000830 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "655" xsd:string
dcterms:identifier "3000830" xsd:string
hasExactSynonym "GPI欠損症" @ja
hasExactSynonym "IGD" @en
hasExactSynonym "Inherited GPI deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_11_029_01.pdf
rdfs:label "先天性グリコシルホスファチジルイノシトール欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_11_029/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000831 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "656" xsd:string
dcterms:identifier "3000831" xsd:string
hasExactSynonym "Cerebral creatine deficiency syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_12_030_01.pdf
rdfs:label "脳クレアチン欠乏症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_12_030/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000456
http://nanbyodata.jp/ontology/nanbyo#3000832 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "657" xsd:string
dcterms:identifier "3000832" xsd:string
hasExactSynonym "Non-syndromic craniosynostosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_13_031_01.pdf
rdfs:label "非症候性頭蓋骨縫合早期癒合症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_13_031/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015337
http://nanbyodata.jp/ontology/nanbyo#3000833 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "658" xsd:string
dcterms:identifier "3000833" xsd:string
hasExactSynonym "Apert syndrome" @en
hasExactSynonym "Apert症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_13_032_01.pdf
rdfs:label "アペール 症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_13_032/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007041
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019796
http://nanbyodata.jp/ontology/nanbyo#3000834 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "659" xsd:string
dcterms:identifier "3000834" xsd:string
hasExactSynonym "Crouzon disease" @en
hasExactSynonym "Crouzon病" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_13_033_01.pdf
rdfs:label "クルーゾン病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_13_033/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007405
http://nanbyodata.jp/ontology/nanbyo#3000835 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "660" xsd:string
dcterms:identifier "3000835" xsd:string
hasExactSynonym "craniosynostosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_13_034_01.pdf
rdfs:label "30から32までに掲げるもののほか、重度の頭蓋骨早期癒合症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_13_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015469
http://nanbyodata.jp/ontology/nanbyo#3000836 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "660" xsd:string
dcterms:identifier "3000836" xsd:string
hasExactSynonym "Carpenter syndrome" @en
hasExactSynonym "カーペンター症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_13_034_01.pdf
rdfs:label "Carpenter症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_13_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000835
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008710
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019012
http://nanbyodata.jp/ontology/nanbyo#3000837 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "660" xsd:string
dcterms:identifier "3000837" xsd:string
hasExactSynonym "Saethre-Chotzen syndrome" @en
hasExactSynonym "ゼーツレ‐コッツェン症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_13_034_01.pdf
rdfs:label "Seather-Chotzen症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_13_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000835
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007042
http://nanbyodata.jp/ontology/nanbyo#3000838 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "660" xsd:string
dcterms:identifier "3000838" xsd:string
hasExactSynonym "" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_13_034_01.pdf
rdfs:label "分類不能の多縫合早期癒合症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_13_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000835
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
http://nanbyodata.jp/ontology/nanbyo#3000839 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "661" xsd:string
dcterms:identifier "3000839" xsd:string
hasExactSynonym "moyamoya disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_14_035_01.pdf
rdfs:label "もやもや病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_14_035/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009649
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016820
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018792
http://nanbyodata.jp/ontology/nanbyo#3000840 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "662" xsd:string
dcterms:identifier "3000840" xsd:string
hasExactSynonym "Cerebral AVM" @en
hasExactSynonym "Cerebral arteriovenous malformation" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_15_036_01.pdf
rdfs:label "脳動静脈奇形" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_15_036/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007154
http://nanbyodata.jp/ontology/nanbyo#3000841 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "663" xsd:string
dcterms:identifier "3000841" xsd:string
hasExactSynonym "Cavernous angioma of the brain and spinal cord" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_16_037_01.pdf
rdfs:label "海綿状血管腫(脳脊髄)" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_16_037/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000842 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "664" xsd:string
dcterms:identifier "3000842" xsd:string
hasExactSynonym "spinal muscular atrophy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_17_038_01.pdf
rdfs:label "脊髄性筋萎縮症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_17_038/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0001516
http://nanbyodata.jp/ontology/nanbyo#3000843 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "665" xsd:string
dcterms:identifier "3000843" xsd:string
hasExactSynonym "congenital insensitIVity to pain with anhidrosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_18_039_01.pdf
rdfs:label "先天性無痛無汗症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_18_039/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000844 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "666" xsd:string
dcterms:identifier "3000844" xsd:string
hasExactSynonym "Charcot-Marie-Tooth disease" @en
hasExactSynonym "Hereditary Motor and Sensory Neuropathy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_18_040_01.pdf
rdfs:label "遺伝性運動感覚ニューロパチー" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_18_040/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002316
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015358
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015626
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018995
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "667" xsd:string
dcterms:identifier "3000845" xsd:string
hasExactSynonym "Duchenne muscular dystrophy" @en
hasExactSynonym "Duchenne型筋ジストロフィー" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_19_041_01.pdf
rdfs:label "デュシェンヌ型筋ジストロフィー" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_19_041/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010679
http://nanbyodata.jp/ontology/nanbyo#3000846 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "668" xsd:string
dcterms:identifier "3000846" xsd:string
hasExactSynonym "Emery-Dreifuss muscular dystrophy" @en
hasExactSynonym "Emery-Dreifuss型筋ジストロフィー" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_19_042_01.pdf
rdfs:label "エメリー・ドレイフス型筋ジストロフィー" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_19_042/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016830
http://nanbyodata.jp/ontology/nanbyo#3000847 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "669" xsd:string
dcterms:identifier "3000847" xsd:string
hasExactSynonym "limb-girdle muscular dystrophy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_19_043_01.pdf
rdfs:label "肢帯型筋ジストロフィー" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_19_043/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016971
http://nanbyodata.jp/ontology/nanbyo#3000848 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "670" xsd:string
dcterms:identifier "3000848" xsd:string
hasExactSynonym "FSMD" @en
hasExactSynonym "facio-scapulohumeral muscular dystrophy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_19_044_01.pdf
rdfs:label "顔面肩甲上腕型筋ジストロフィー" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_19_044/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0001347
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008030
http://nanbyodata.jp/ontology/nanbyo#3000849 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "671" xsd:string
dcterms:identifier "3000849" xsd:string
hasExactSynonym "FCMD" @en
hasExactSynonym "Fukuyama congenital muscular dystrophy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_19_045_01.pdf
rdfs:label "福山型先天性筋ジストロフィー" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_19_045/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009678
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0023204
http://nanbyodata.jp/ontology/nanbyo#3000850 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "672" xsd:string
dcterms:identifier "3000850" xsd:string
hasExactSynonym "merosin-deficient congenital muscular dystrophy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_19_046_01.pdf
rdfs:label "メロシン欠損型先天性筋ジストロフィー" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_19_046/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011925
http://nanbyodata.jp/ontology/nanbyo#3000851 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "673" xsd:string
dcterms:identifier "3000851" xsd:string
hasExactSynonym "Ullrich congenital muscular dystrophy" @en
hasExactSynonym "Ullrich型先天性筋ジストロフィー" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_19_047_01.pdf
rdfs:label "ウルリヒ型先天性筋ジストロフィー" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_19_047/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000355
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009681
http://nanbyodata.jp/ontology/nanbyo#3000852 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "674" xsd:string
dcterms:identifier "3000852" xsd:string
hasExactSynonym "Muscular dystrophy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_19_048_01.pdf
rdfs:label "38から44に掲げるもののほか、筋ジストロフィー" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_19_048/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020121
http://nanbyodata.jp/ontology/nanbyo#3000853 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "674" xsd:string
dcterms:identifier "3000853" xsd:string
hasExactSynonym "Myotonic dystrophy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_19_048_01.pdf
rdfs:label "筋硬直型筋ジストロフィー" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_19_048/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000852
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016107
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has_notification_number "674" xsd:string
dcterms:identifier "3000854" xsd:string
hasExactSynonym "BMD" @en
hasExactSynonym "Becker muscular dystrophy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_19_048_01.pdf
rdfs:label "ベッカー型筋ジストロフィー" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010311
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has_notification_number "674" xsd:string
dcterms:identifier "3000855" xsd:string
hasExactSynonym "L-CMD" @en
hasExactSynonym "lamin related CMD" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_19_048_01.pdf
rdfs:label "LMNA遺伝子変異型筋ジストロフィー" @ja
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rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000852
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0013178
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has_notification_number "675" xsd:string
dcterms:identifier "3000856" xsd:string
hasExactSynonym "Centronuclear myopathy" @en
hasExactSynonym "myotubular myopathy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_20_049_01.pdf
rdfs:label "ミオチュブラーミオパチー" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_20_049/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002921
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018947
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has_notification_number "676" xsd:string
dcterms:identifier "3000857" xsd:string
hasExactSynonym "Congenital fiber-type disproportion myopathy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_20_050_01.pdf
rdfs:label "先天性筋線維不均等症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_20_050/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009711
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "677" xsd:string
dcterms:identifier "3000858" xsd:string
hasExactSynonym "nemaline myopathy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_20_051_01.pdf
rdfs:label "ネマリンミオパチー" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_20_051/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018958
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "678" xsd:string
dcterms:identifier "3000859" xsd:string
hasExactSynonym "central core disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_20_052_01.pdf
rdfs:label "セントラルコア病" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007294
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has_notification_number "679" xsd:string
dcterms:identifier "3000860" xsd:string
hasExactSynonym "multicore disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_20_053_01.pdf
rdfs:label "マルチコア病" @ja
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rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018948
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has_notification_number "680" xsd:string
dcterms:identifier "3000861" xsd:string
hasExactSynonym "mini core disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_20_054_01.pdf
rdfs:label "ミニコア病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_20_054/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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has_notification_number "681" xsd:string
dcterms:identifier "3000862" xsd:string
hasExactSynonym "congenital structural myopathy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_20_055_01.pdf
rdfs:label "46から51までに掲げるもののほか、先天性ミオパチー" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_20_055/
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002921
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has_notification_number "681" xsd:string
dcterms:identifier "3000863" xsd:string
hasExactSynonym "CNMDU1 " @en
hasExactSynonym "Congenital Neuromuscular Disease with Uniform Type 1 Fiber" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_20_055_01.pdf
rdfs:label "先天性全タイプ1線維ミオパチー" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_20_055/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000862
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "681" xsd:string
dcterms:identifier "3000864" xsd:string
hasExactSynonym "reducing body myopathy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_20_055_01.pdf
rdfs:label "還元小体ミオパチー" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_20_055/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000862
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019948
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "682" xsd:string
dcterms:identifier "3000865" xsd:string
hasExactSynonym "Schwartz-Jampel syndrome" @en
hasExactSynonym "Schwartz-Jampel症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_21_056_01.pdf
rdfs:label "シュワルツ・ヤンペル症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_21_056/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009717
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "683" xsd:string
dcterms:identifier "3000866" xsd:string
hasExactSynonym "Dravet syndrome" @en
hasExactSynonym "Severe myoclonic epilepsy in infancy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_22_057_01.pdf
rdfs:label "乳児重症ミオクロニーてんかん" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_22_057/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011794
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "684" xsd:string
dcterms:identifier "3000867" xsd:string
hasExactSynonym "West syndrome" @en
hasExactSynonym "ウエスト症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_22_058_01.pdf
rdfs:label "点頭てんかん" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_22_058/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018097
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "685" xsd:string
dcterms:identifier "3000868" xsd:string
hasExactSynonym "Lennox-Gastaut syndrome" @en
hasExactSynonym "Lennox-Gastaut症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_22_059_01.pdf
rdfs:label "レノックス・ガストー症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_22_059/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016532
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "686" xsd:string
dcterms:identifier "3000869" xsd:string
hasExactSynonym "Unverricht-Lundborg disease" @en
hasExactSynonym "Unverricht-Lundborg病" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_23_060_01.pdf
rdfs:label "ウンフェルリヒト・ルントボルク病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_23_060/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009698
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "687" xsd:string
dcterms:identifier "3000870" xsd:string
hasExactSynonym "Lafora disease" @en
hasExactSynonym "Lafora病" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_23_061_01.pdf
rdfs:label "ラフォラ病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_23_061/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009697
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "688" xsd:string
dcterms:identifier "3000871" xsd:string
hasExactSynonym "SCD" @en
hasExactSynonym "spinocerebellar degeneration" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_24_062_01.pdf
rdfs:label "脊髄小脳変性症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_24_062/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000359
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000437
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007374
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018484
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "689" xsd:string
dcterms:identifier "3000872" xsd:string
hasExactSynonym "AHC" @en
hasExactSynonym "alternating hemiplegia of childhood" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_25_063_01.pdf
rdfs:label "小児交互性片麻痺" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_25_063/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010264
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016241
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "690" xsd:string
dcterms:identifier "3000873" xsd:string
hasExactSynonym "dystonia musculorum deformans" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_26_064_01.pdf
rdfs:label "変形性筋ジストニー" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_26_064/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000476
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007492
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0044811
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "691" xsd:string
dcterms:identifier "3000874" xsd:string
hasExactSynonym "" @en
hasExactSynonym "DRD" @en
hasExactSynonym "Dopamine-responsive dystonia" @en
hasExactSynonym "HPD" @en
hasExactSynonym "Hereditary progressive dystonia with diurnal variation" @en
hasExactSynonym "Segeawa syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_26_065_01.pdf
rdfs:label "瀬川病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_26_065/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002254
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007495
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008840
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "692" xsd:string
dcterms:identifier "3000875" xsd:string
hasExactSynonym "PKAN" @en
hasExactSynonym "Pantothenate kinase-associated neurodegeneration" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_27_066_01.pdf
rdfs:label "パントテン酸キナーゼ関連神経変性症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_27_066/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009319
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "693" xsd:string
dcterms:identifier "3000876" xsd:string
hasExactSynonym "INAD" @en
hasExactSynonym "infantile neuroaxonal dystrophy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_27_067_01.pdf
rdfs:label "乳児神経軸索ジストロフィー" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_27_067/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009739
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "694" xsd:string
dcterms:identifier "3000877" xsd:string
hasExactSynonym "IBSN" @en
hasExactSynonym "infantile bilateral striatal necrosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_28_068_01.pdf
rdfs:label "乳児両側線条体壊死" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_28_068/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010080
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015518
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "695" xsd:string
dcterms:identifier "3000878" xsd:string
hasExactSynonym "Congenital herpes simplex virus infection" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_29_069_01.pdf
rdfs:label "先天性ヘルペスウイルス感染症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_29_069/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017381
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "696" xsd:string
dcterms:identifier "3000879" xsd:string
hasExactSynonym "congenital rubella syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_29_070_01.pdf
rdfs:label "先天性風疹症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_29_070/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005713
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017361
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "697" xsd:string
dcterms:identifier "3000880" xsd:string
hasExactSynonym "Congenital cytomegalovirus infection" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_29_071_01.pdf
rdfs:label "先天性サイトメガロウイルス感染症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_29_071/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "698" xsd:string
dcterms:identifier "3000881" xsd:string
hasExactSynonym "Congenital toxoplasmosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_29_072_01.pdf
rdfs:label "先天性トキソプラズマ感染症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_29_072/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005715
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "699" xsd:string
dcterms:identifier "3000882" xsd:string
hasExactSynonym "AGS1" @en
hasExactSynonym "Aicardi-Goutieres syndrome" @en
hasExactSynonym "Aicardi-Goutieres症候群" @ja
hasExactSynonym "Aicardi-Goutières syndrome" @en
hasExactSynonym "TREX1欠損症" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_30_073_01.pdf
rdfs:label "エカルディ・グティエール症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_30_073/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009165
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018866
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has_notification_number "699" xsd:string
dcterms:identifier "3000883" xsd:string
hasExactSynonym "AGS2" @en
hasExactSynonym "Aicardi-Goutieres syndrome 2" @en
hasExactSynonym "Aicardi-Goutières syndrome 2" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_30_073_01.pdf
rdfs:label "RNASEH2B欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/11_30_073/
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hasExactSynonym "Aicardi-Goutières syndrome 3" @en
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hasExactSynonym "Aicardi-Goutières syndrome 4a" @en
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rdfs:label "SAMHD1欠損症" @ja
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hasExactSynonym "AGS6" @en
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hasExactSynonym "Aicardi-Goutières syndrome6" @en
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hasExactSynonym "SSPE" @en
hasExactSynonym "subacute sclerosing panencephalitis" @en
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hasExactSynonym "Rasmussen encephalitis" @en
hasExactSynonym "Rasmussen脳炎" @ja
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rdfs:label "ラスムッセン脳炎" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016019
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hasExactSynonym "AESD" @en
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rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_33_076_01.pdf
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018198
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has_notification_number "703" xsd:string
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hasExactSynonym "Autoimmune encephalitis / encephalopathy" @en
hasExactSynonym "自己免疫介在性脳症" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_34_077_01.pdf
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hasExactSynonym "AERRPS" @en
hasExactSynonym "acute encephalitis with refractory, repetitive partial seizures" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_35_078_01.pdf
rdfs:label "難治頻回部分発作重積型急性脳炎" @ja
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has_notification_number "705" xsd:string
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hasExactSynonym "multiple sclerosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_36_079_01.pdf
rdfs:label "多発性硬化症" @ja
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has_notification_number "706" xsd:string
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hasExactSynonym "CIDP" @en
hasExactSynonym "Chronic inflammatory demyelinating polyneuropathy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_37_080_01.pdf
rdfs:label "慢性炎症性脱髄性多発神経炎" @ja
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hasExactSynonym "MG" @en
hasExactSynonym "myasthenia gravis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_11_38_081_01.pdf
rdfs:label "重症筋無力症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009688
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has_notification_number "708" xsd:string
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hasExactSynonym "lactose intolerance" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_01_001_01.pdf
rdfs:label "乳糖不耐症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009116
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has_notification_number "709" xsd:string
dcterms:identifier "3000897" xsd:string
hasExactSynonym "CSID" @en
hasExactSynonym "congenital sucrase-isomaltase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_01_002_01.pdf
rdfs:label "ショ糖イソ麦芽糖分解酵素欠損症" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009114
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has_notification_number "710" xsd:string
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hasExactSynonym "GGM" @en
hasExactSynonym "glucose-galactose malabsorption" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_01_003_01.pdf
rdfs:label "先天性グルコース・ガラクトース吸収不良症" @ja
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rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011731
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has_notification_number "711" xsd:string
dcterms:identifier "3000899" xsd:string
hasExactSynonym "enterokinase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_01_004_01.pdf
rdfs:label "エンテロキナーゼ欠損症" @ja
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rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009173
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has_notification_number "712" xsd:string
dcterms:identifier "3000900" xsd:string
hasExactSynonym "amylase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_01_005_01.pdf
rdfs:label "アミラーゼ欠損症" @ja
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has_notification_number "713" xsd:string
dcterms:identifier "3000901" xsd:string
hasExactSynonym "lipase deficiency" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_01_006_01.pdf
rdfs:label "リパーゼ欠損症" @ja
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has_notification_number "714" xsd:string
dcterms:identifier "3000902" xsd:string
hasExactSynonym "microvillus inclusion disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_01_007_01.pdf
rdfs:label "微絨毛封入体病" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009635
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has_notification_number "715" xsd:string
dcterms:identifier "3000903" xsd:string
hasExactSynonym "Intestinal Lymphangiectasia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_01_008_01.pdf
rdfs:label "腸リンパ管拡張症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_01_008/
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has_notification_number "716" xsd:string
dcterms:identifier "3000904" xsd:string
hasExactSynonym "FAP" @en
hasExactSynonym "familial adenomatous polyposis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_02_009_01.pdf
rdfs:label "家族性腺腫性ポリポーシス" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0021055
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has_notification_number "717" xsd:string
dcterms:identifier "3000905" xsd:string
hasExactSynonym "Juvenile polyposis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_02_010_01.pdf
rdfs:label "若年性ポリポーシス" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_02_010/
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008276
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017380
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has_notification_number "718" xsd:string
dcterms:identifier "3000906" xsd:string
hasExactSynonym "Peutz-Jeghers syndrome" @en
hasExactSynonym "Peutz-Jeghers症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_02_011_01.pdf
rdfs:label "ポイツ・ジェガース症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_02_011/
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008280
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has_notification_number "719" xsd:string
dcterms:identifier "3000907" xsd:string
hasExactSynonym "Cowden syndrome" @en
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rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_02_012_01.pdf
rdfs:label "カウデン症候群" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016063
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has_notification_number "720" xsd:string
dcterms:identifier "3000908" xsd:string
hasExactSynonym "Cyclic Vomiting Syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_03_013_01.pdf
rdfs:label "周期性嘔吐症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_03_013/
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has_notification_number "721" xsd:string
dcterms:identifier "3000909" xsd:string
hasExactSynonym "Ulcerative colitis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_04_014_01.pdf
rdfs:label "潰瘍性大腸炎" @ja
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005101
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009960
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has_notification_number "722" xsd:string
dcterms:identifier "3000910" xsd:string
hasExactSynonym "Crohn disease" @en
hasExactSynonym "Crohn病" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_04_015_01.pdf
rdfs:label "クローン病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_04_015/
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005011
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009960
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has_notification_number "723" xsd:string
dcterms:identifier "3000911" xsd:string
hasExactSynonym "Early-onset Inflammatory Bowel Disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_04_016_01.pdf
rdfs:label "早期発症型炎症性腸疾患" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_04_016/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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has_notification_number "724" xsd:string
dcterms:identifier "3000912" xsd:string
hasExactSynonym "IPEX syndrome" @en
hasExactSynonym "IPEX症候群" @ja
hasExactSynonym "autoimmune enteropathy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_04_017_01.pdf
rdfs:label "自己免疫性腸症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_04_017/
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skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010580
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019787
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has_notification_number "725" xsd:string
dcterms:identifier "3000913" xsd:string
hasExactSynonym "CEAS" @en
hasExactSynonym "Chronic enteropathy associated with SLCO2A1" @en
hasExactSynonym "Chronic nonspecific multiple ulcers of the small intestine" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_05_018_01.pdf
rdfs:label "非特異性多発性小腸潰瘍症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_05_018/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018766
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has_notification_number "726" xsd:string
dcterms:identifier "3000914" xsd:string
hasExactSynonym "Acute Liver Failure" @en
hasExactSynonym "hepatic coma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_06_019_01.pdf
rdfs:label "急性肝不全" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_06_019/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0001548
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019542
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "727" xsd:string
dcterms:identifier "3000915" xsd:string
hasExactSynonym "Neonatal Hemochromatosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_07_020_01.pdf
rdfs:label "新生児ヘモクロマトーシス" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_07_020/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009275
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "728" xsd:string
dcterms:identifier "3000916" xsd:string
hasExactSynonym "AIH" @en
hasExactSynonym "Autoimmune hepatitis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_07_021_01.pdf
rdfs:label "自己免疫性肝炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_07_021/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016264
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "729" xsd:string
dcterms:identifier "3000917" xsd:string
hasExactSynonym "PSC" @en
hasExactSynonym "Primary sclerosing cholangitis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_07_022_01.pdf
rdfs:label "原発性硬化性胆管炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_07_022/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002808
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0013433
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018646
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "730" xsd:string
dcterms:identifier "3000918" xsd:string
hasExactSynonym "biliary atresia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_08_023_01.pdf
rdfs:label "胆道閉鎖症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_08_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008867
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0028737
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "731" xsd:string
dcterms:identifier "3000919" xsd:string
hasExactSynonym "Alagille syndrome" @en
hasExactSynonym "Alagille症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_08_024_01.pdf
rdfs:label "アラジール症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_08_024/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007318
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "732" xsd:string
dcterms:identifier "3000920" xsd:string
hasExactSynonym "Non-syndromic paucity of intrahepatic bile duct" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_08_025_01.pdf
rdfs:label "肝内胆管減少症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_08_025/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "733" xsd:string
dcterms:identifier "3000921" xsd:string
hasExactSynonym "PFIC" @en
hasExactSynonym "progressive familial intrahepatic cholestasis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_08_026_01.pdf
rdfs:label "進行性家族性肝内胆汁うっ滞症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_08_026/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008892
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015762
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "734" xsd:string
dcterms:identifier "3000922" xsd:string
hasExactSynonym "Caroli Disease" @en
hasExactSynonym "カロリ病" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_08_027_01.pdf
rdfs:label "先天性多発肝内胆管拡張症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_08_027/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010913
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018808
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "735" xsd:string
dcterms:identifier "3000923" xsd:string
hasExactSynonym "congenital biliary dilatation" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_08_028_01.pdf
rdfs:label "先天性胆道拡張症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_08_028/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000924 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "736" xsd:string
dcterms:identifier "3000924" xsd:string
hasExactSynonym "CHF" @en
hasExactSynonym "congenital hepatic fibrosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_09_029_01.pdf
rdfs:label "先天性肝線維症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_09_029/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005009
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0022263
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "737" xsd:string
dcterms:identifier "3000925" xsd:string
hasExactSynonym "Liver Cirrhosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_09_030_01.pdf
rdfs:label "肝硬変症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_09_030/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005155
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "738" xsd:string
dcterms:identifier "3000926" xsd:string
hasExactSynonym "Banti syndrome" @en
hasExactSynonym "portal hypertension" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_10_031_01.pdf
rdfs:label "門脈圧亢進症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_10_031/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005080
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0021969
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0037251
http://nanbyodata.jp/ontology/nanbyo#3000927 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "739" xsd:string
dcterms:identifier "3000927" xsd:string
hasExactSynonym "Congenital Absence of Portal Vein" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_10_032_01.pdf
rdfs:label "先天性門脈欠損症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_10_032/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000928 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "740" xsd:string
dcterms:identifier "3000928" xsd:string
hasExactSynonym "Congenital Hepatoportal Arteriovenous Fistula" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_10_033_01.pdf
rdfs:label "門脈・肝動脈瘻" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_10_033/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000929 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "741" xsd:string
dcterms:identifier "3000929" xsd:string
hasExactSynonym "Crigler-Najjar syndrome" @en
hasExactSynonym "Crigler-Najjar症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_11_034_01.pdf
rdfs:label "クリグラー・ナジャー症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_11_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009044
http://nanbyodata.jp/ontology/nanbyo#3000930 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "742" xsd:string
dcterms:identifier "3000930" xsd:string
hasExactSynonym "Hereditary Pancreatitis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_12_035_01.pdf
rdfs:label "遺伝性膵炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_12_035/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008185
http://nanbyodata.jp/ontology/nanbyo#3000931 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "743" xsd:string
dcterms:identifier "3000931" xsd:string
hasExactSynonym "Autoimmune pancreatitis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_12_036_01.pdf
rdfs:label "自己免疫性膵炎" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_12_036/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015175
http://nanbyodata.jp/ontology/nanbyo#3000932 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "744" xsd:string
dcterms:identifier "3000932" xsd:string
hasExactSynonym "Short Bowel Syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_13_037_01.pdf
rdfs:label "短腸症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_13_037/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015183
http://nanbyodata.jp/ontology/nanbyo#3000933 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "745" xsd:string
dcterms:identifier "3000933" xsd:string
hasExactSynonym "Hirschsprung disease" @en
hasExactSynonym "Hirschsprung病" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_14_038_01.pdf
rdfs:label "ヒルシュスプルング病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_14_038/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007723
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018309
http://nanbyodata.jp/ontology/nanbyo#3000934 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "746" xsd:string
dcterms:identifier "3000934" xsd:string
hasExactSynonym "chronic idiopathic intestinal pseudo-obstruction" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_14_039_01.pdf
rdfs:label "慢性特発性偽性腸閉塞症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_14_039/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000935 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "747" xsd:string
dcterms:identifier "3000935" xsd:string
hasExactSynonym "MMIHS" @en
hasExactSynonym "Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_14_040_01.pdf
rdfs:label "巨大膀胱短小結腸腸管蠕動不全症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_14_040/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007960
http://nanbyodata.jp/ontology/nanbyo#3000936 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "748" xsd:string
dcterms:identifier "3000936" xsd:string
hasExactSynonym "Congenital Isolated Hypoganglionosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_14_041_01.pdf
rdfs:label "腸管神経節細胞僅少症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_14_041/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000937 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "749" xsd:string
dcterms:identifier "3000937" xsd:string
hasExactSynonym "critical infantile hepatic haemangioma" @en
hasExactSynonym "giant hepatic haemangiomas" @en
hasExactSynonym "乳幼児難治性肝血管腫" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_15_042_01.pdf
rdfs:label "肝巨大血管腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_15_042/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000938 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "750" xsd:string
dcterms:identifier "3000938" xsd:string
hasExactSynonym "persistent cloaca" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_16_043_01.pdf
rdfs:label "総排泄腔遺残" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_16_043/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000939 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "751" xsd:string
dcterms:identifier "3000939" xsd:string
hasExactSynonym "Cloacal extrophy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_12_16_044_01.pdf
rdfs:label "総排泄腔外反症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/12_16_044/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000940 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "752" xsd:string
dcterms:identifier "3000940" xsd:string
hasExactSynonym "Coffin-Lowry syndrome" @en
hasExactSynonym "Coffin-Lowry症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_001_01.pdf
rdfs:label "コフィン・ローリー症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_001/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010561
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "753" xsd:string
dcterms:identifier "3000941" xsd:string
hasExactSynonym "Sotos syndrome" @en
hasExactSynonym "Sotos症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_002_01.pdf
rdfs:label "ソトス症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_002/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007299
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019349
http://nanbyodata.jp/ontology/nanbyo#3000942 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "754" xsd:string
dcterms:identifier "3000942" xsd:string
hasExactSynonym "Smith-Magenis syndrome" @en
hasExactSynonym "Smith-Magenis症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_003_01.pdf
rdfs:label "スミス・マギニス症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_003/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008434
http://nanbyodata.jp/ontology/nanbyo#3000943 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "755" xsd:string
dcterms:identifier "3000943" xsd:string
hasExactSynonym "Rubinstein-Taybi syndrome" @en
hasExactSynonym "Rubinstein-Taybi症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_004_01.pdf
rdfs:label "ルビンシュタイン・テイビ症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_004/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019188
http://nanbyodata.jp/ontology/nanbyo#3000944 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "756" xsd:string
dcterms:identifier "3000944" xsd:string
hasExactSynonym "Kabuki syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_005_01.pdf
rdfs:label "歌舞伎症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_005/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007843
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016512
http://nanbyodata.jp/ontology/nanbyo#3000945 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "757" xsd:string
dcterms:identifier "3000945" xsd:string
hasExactSynonym "Weaver syndrome" @en
hasExactSynonym "Weaver症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_006_01.pdf
rdfs:label "ウィーバー症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_006/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010193
http://nanbyodata.jp/ontology/nanbyo#3000946 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "758" xsd:string
dcterms:identifier "3000946" xsd:string
hasExactSynonym "Cornelia de Lange syndrome" @en
hasExactSynonym "Cornelia de Lange症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_007_01.pdf
rdfs:label "コルネリア・デランゲ症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_007/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016033
http://nanbyodata.jp/ontology/nanbyo#3000947 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "759" xsd:string
dcterms:identifier "3000947" xsd:string
hasExactSynonym "Beckwith-Wiedemann syndrome" @en
hasExactSynonym "Beckwith-Wiedemann症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_008_01.pdf
rdfs:label "ベックウィズ・ヴィーデマン症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_008/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007534
http://nanbyodata.jp/ontology/nanbyo#3000948 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "760" xsd:string
dcterms:identifier "3000948" xsd:string
hasExactSynonym "Angelman syndrome" @en
hasExactSynonym "Angelman症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_009_01.pdf
rdfs:label "アンジェルマン症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_009/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007113
http://nanbyodata.jp/ontology/nanbyo#3000949 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "761" xsd:string
dcterms:identifier "3000949" xsd:string
hasExactSynonym "5p- syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_010_01.pdf
rdfs:label "5p-症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_010/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007404
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008297
http://nanbyodata.jp/ontology/nanbyo#3000950 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "762" xsd:string
dcterms:identifier "3000950" xsd:string
hasExactSynonym "4p- Syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_011_01.pdf
rdfs:label "4p-症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_011/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008684
http://nanbyodata.jp/ontology/nanbyo#3000951 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "763" xsd:string
dcterms:identifier "3000951" xsd:string
hasExactSynonym "18 trisomy syndrome" @en
hasExactSynonym "Chromosome 18 duplication" @en
hasExactSynonym "Edwards syndrome" @en
hasExactSynonym "Trisomy 18" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_012_01.pdf
rdfs:label "18トリソミー症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_012/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010336
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018071
http://nanbyodata.jp/ontology/nanbyo#3000952 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "764" xsd:string
dcterms:identifier "3000952" xsd:string
hasExactSynonym "13 trisomy syndrome" @en
hasExactSynonym "Patau syndrome" @en
hasExactSynonym "Trisomy 13" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_013_01.pdf
rdfs:label "13トリソミー症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_013/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0001333
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018068
http://nanbyodata.jp/ontology/nanbyo#3000953 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "765" xsd:string
dcterms:identifier "3000953" xsd:string
hasExactSynonym "Down syndrome" @en
hasExactSynonym "Down症候群" @ja
hasExactSynonym "trisomy 21" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_014_01.pdf
rdfs:label "ダウン症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_014/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008608
http://nanbyodata.jp/ontology/nanbyo#3000954 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "766" xsd:string
dcterms:identifier "3000954" xsd:string
hasExactSynonym "Autosome" @en
hasExactSynonym "Chromosomal abnormalities" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_015_01.pdf
rdfs:label "9から14までに掲げるもののほか、常染色体異常" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_015/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000955 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "767" xsd:string
dcterms:identifier "3000955" xsd:string
hasExactSynonym "Cardio-facio-cutaneuos syndrome" @en
hasExactSynonym "cardio-facio-cutaneous症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_016_01.pdf
rdfs:label "CFC症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_016/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000956 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "768" xsd:string
dcterms:identifier "3000956" xsd:string
hasExactSynonym "Marfan syndrome" @en
hasExactSynonym "Marfan症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_017_01.pdf
rdfs:label "マルファン症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_017/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007947
http://nanbyodata.jp/ontology/nanbyo#3000957 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "769" xsd:string
dcterms:identifier "3000957" xsd:string
hasExactSynonym "Loeys-Dietz syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_018_01.pdf
rdfs:label "ロイス・ディーツ症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_018/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018954
http://nanbyodata.jp/ontology/nanbyo#3000958 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "770" xsd:string
dcterms:identifier "3000958" xsd:string
hasExactSynonym "Camurati-Engelmann disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_019_01.pdf
rdfs:label "カムラティ・エンゲルマン症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_019/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007542
http://nanbyodata.jp/ontology/nanbyo#3000959 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "771" xsd:string
dcterms:identifier "3000959" xsd:string
hasExactSynonym "Costello syndrome" @en
hasExactSynonym "Costello症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_020_01.pdf
rdfs:label "コステロ症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_020/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009026
http://nanbyodata.jp/ontology/nanbyo#3000960 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "772" xsd:string
dcterms:identifier "3000960" xsd:string
hasExactSynonym "CHARGE syndrome" @en
hasExactSynonym "CHARGE症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_021_01.pdf
rdfs:label "チャージ症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_021/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008965
http://nanbyodata.jp/ontology/nanbyo#3000961 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "773" xsd:string
dcterms:identifier "3000961" xsd:string
hasExactSynonym "HSS" @en
hasExactSynonym "Hallermann-Streiff syndrome" @en
hasExactSynonym "Hallermann-Streiff-Francois syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_022_01.pdf
rdfs:label "ハーラマン・ストライフ症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_022/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009318
http://nanbyodata.jp/ontology/nanbyo#3000962 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "774" xsd:string
dcterms:identifier "3000962" xsd:string
hasExactSynonym "Bloch-Sulzberger Syndrome" @en
hasExactSynonym "Incontinentia Pigmenti" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_023_01.pdf
rdfs:label "色素失調症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_023/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010631
http://nanbyodata.jp/ontology/nanbyo#3000963 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "775" xsd:string
dcterms:identifier "3000963" xsd:string
hasExactSynonym "Antley-Bixler Syndrome" @en
hasExactSynonym "Antley-Bixler症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_024_01.pdf
rdfs:label "アントレー・ビクスラー症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_024/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008803
http://nanbyodata.jp/ontology/nanbyo#3000964 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "776" xsd:string
dcterms:identifier "3000964" xsd:string
hasExactSynonym "Pfeiffer syndrome" @en
hasExactSynonym "Pfeiffer症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_025_01.pdf
rdfs:label "ファイファー症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_025/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005810
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007043
http://nanbyodata.jp/ontology/nanbyo#3000965 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "777" xsd:string
dcterms:identifier "3000965" xsd:string
hasExactSynonym "Coffin-Siris syndrome" @en
hasExactSynonym "Coffin-Siris症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_026_01.pdf
rdfs:label "コフィン・シリス症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_026/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015452
http://nanbyodata.jp/ontology/nanbyo#3000966 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "778" xsd:string
dcterms:identifier "3000966" xsd:string
hasExactSynonym "Simpson-Golabi-Behmel syndrome" @en
hasExactSynonym "Simpson-Golabi-Behmel症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_027_01.pdf
rdfs:label "シンプソン・ゴラビ・ベーメル症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_027/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010731
http://nanbyodata.jp/ontology/nanbyo#3000967 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "779" xsd:string
dcterms:identifier "3000967" xsd:string
hasExactSynonym "Smith-Lemli-Opitz syndrome" @en
hasExactSynonym "Smith-Lemli-Opitz症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_028_01.pdf
rdfs:label "スミス・レムリ・オピッツ症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_028/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010035
http://nanbyodata.jp/ontology/nanbyo#3000968 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "780" xsd:string
dcterms:identifier "3000968" xsd:string
hasExactSynonym "Moebius syndrome" @en
hasExactSynonym "Moebius症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_029_01.pdf
rdfs:label "メビウス症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_029/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008006
http://nanbyodata.jp/ontology/nanbyo#3000969 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "781" xsd:string
dcterms:identifier "3000969" xsd:string
hasExactSynonym "Mowat-Wilson syndrome" @en
hasExactSynonym "Mowat-Wilson症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_030_01.pdf
rdfs:label "モワット・ウィルソン症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_030/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009341
http://nanbyodata.jp/ontology/nanbyo#3000970 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "782" xsd:string
dcterms:identifier "3000970" xsd:string
hasExactSynonym "Young-Simpson syndrome" @en
hasExactSynonym "Young-Simpson症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_031_01.pdf
rdfs:label "ヤング・シンプソン症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_031/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0011365
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017393
http://nanbyodata.jp/ontology/nanbyo#3000971 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "783" xsd:string
dcterms:identifier "3000971" xsd:string
hasExactSynonym "VATER syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_032_01.pdf
rdfs:label "VATER症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_032/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008642
http://nanbyodata.jp/ontology/nanbyo#3000972 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "784" xsd:string
dcterms:identifier "3000972" xsd:string
hasExactSynonym "MECP2 duplication syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_033_01.pdf
rdfs:label "MECP2重複症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_033/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010283
http://nanbyodata.jp/ontology/nanbyo#3000973 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "785" xsd:string
dcterms:identifier "3000973" xsd:string
hasExactSynonym "Takenouchi-Kosaki syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_13_01_034_01.pdf
rdfs:label "武内・小崎症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/13_01_034/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0014757
http://nanbyodata.jp/ontology/nanbyo#3000974 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "786" xsd:string
dcterms:identifier "3000974" xsd:string
hasExactSynonym "OCA" @en
hasExactSynonym "oculocutaneous albinism" @en
hasExactSynonym "先天性白皮症" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_14_01_001_01.pdf
rdfs:label "眼皮膚白皮症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/14_01_001/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018910
http://nanbyodata.jp/ontology/nanbyo#3000975 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "787" xsd:string
dcterms:identifier "3000975" xsd:string
hasExactSynonym "epidermolytic ichthyosis and superficial epidermolytic ichthyos" @en
hasExactSynonym "keratinopathic ichthyosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_14_02_002_01.pdf
rdfs:label "ケラチン症性魚鱗癬" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/14_02_002/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017266
http://nanbyodata.jp/ontology/nanbyo#3000976 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "787" xsd:string
dcterms:identifier "3000976" xsd:string
hasExactSynonym "Autosomal dominant epidermolytic ichthyosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_14_02_002_01.pdf
rdfs:label "表皮融解性魚鱗癬(優性)" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/14_02_002/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000975
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007239
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0020702
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "787" xsd:string
dcterms:identifier "3000977" xsd:string
hasExactSynonym "Autosomal recessive epidermolytic ichthyosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_14_02_002_01.pdf
rdfs:label "表皮融解性魚鱗癬(劣性)" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/14_02_002/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000975
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0044742
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "787" xsd:string
dcterms:identifier "3000978" xsd:string
hasExactSynonym "superficial epidermolytic ichthyos" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_14_02_002_01.pdf
rdfs:label "表在性表皮融解性魚鱗癬" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/14_02_002/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000975
http://nanbyodata.jp/ontology/nanbyo#3000979 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "788" xsd:string
dcterms:identifier "3000979" xsd:string
hasExactSynonym "autosomal recessive congenital ichthyosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_14_02_003_01.pdf
rdfs:label "常染色体劣性遺伝性魚鱗癬" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/14_02_003/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017265
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "789" xsd:string
dcterms:identifier "3000980" xsd:string
hasExactSynonym "harlequin ichthyosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_14_02_004_01.pdf
rdfs:label "道化師様魚鱗癬" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/14_02_004/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009443
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "790" xsd:string
dcterms:identifier "3000981" xsd:string
hasExactSynonym "Netherton syndrome" @en
hasExactSynonym "Netherton症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_14_02_005_01.pdf
rdfs:label "ネザートン症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/14_02_005/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009735
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "791" xsd:string
dcterms:identifier "3000982" xsd:string
hasExactSynonym "Sjogren-Larsson syndrome" @en
hasExactSynonym "Sjogren-Larsson症候群" @ja
hasExactSynonym "Sjögren-Larsson syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_14_02_006_01.pdf
rdfs:label "シェーグレン・ラルソン症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/14_02_006/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010031
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "792" xsd:string
dcterms:identifier "3000983" xsd:string
hasExactSynonym "Other congenital ichthyoses" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_14_02_007_01.pdf
rdfs:label "2から6までに掲げるもののほか、先天性魚鱗癬" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/14_02_007/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "792" xsd:string
dcterms:identifier "3000984" xsd:string
hasExactSynonym "keratitis-ichthyosis-deafness syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_14_02_007_01.pdf
rdfs:label "KID症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/14_02_007/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000983
http://nanbyodata.jp/ontology/nanbyo#3000985 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "792" xsd:string
dcterms:identifier "3000985" xsd:string
hasExactSynonym "Dorfman-Chanarin syndrome" @en
hasExactSynonym "neutral lipid storage disease" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_14_02_007_01.pdf
rdfs:label "Dorfman-Chanarin症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/14_02_007/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000983
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010155
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0015611
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "792" xsd:string
dcterms:identifier "3000986" xsd:string
hasExactSynonym "Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_14_02_007_01.pdf
rdfs:label "CHILD症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/14_02_007/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000983
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0010621
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "792" xsd:string
dcterms:identifier "3000987" xsd:string
hasExactSynonym "Ichthyosis-follicularis-atrichia-photophobia syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_14_02_007_01.pdf
rdfs:label "IFAP症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/14_02_007/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000983
http://nanbyodata.jp/ontology/nanbyo#3000988 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "793" xsd:string
dcterms:identifier "3000988" xsd:string
hasExactSynonym "epidermolysis bullosa" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_14_03_008_01.pdf
rdfs:label "表皮水疱症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/14_03_008/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0006541
http://nanbyodata.jp/ontology/nanbyo#3000989 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "794" xsd:string
dcterms:identifier "3000989" xsd:string
hasExactSynonym "pustular psoriasis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_14_04_009_01.pdf
rdfs:label "膿疱性乾癬(汎発型)" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/14_04_009/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0022205
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "795" xsd:string
dcterms:identifier "3000990" xsd:string
hasExactSynonym "XP" @en
hasExactSynonym "Xeroderma pigmentosum" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_14_05_010_01.pdf
rdfs:label "色素性乾皮症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/14_05_010/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019600
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "796" xsd:string
dcterms:identifier "3000991" xsd:string
hasExactSynonym "neurofibromatosis type 1" @en
hasExactSynonym "von Recklinghausen's disease" @en
hasExactSynonym "神経線維腫症Ⅰ型" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_14_06_011_01.pdf
rdfs:label "レックリングハウゼン病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/14_06_011/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018975
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0021061
http://nanbyodata.jp/ontology/nanbyo#3000992 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "797" xsd:string
dcterms:identifier "3000992" xsd:string
hasExactSynonym "pachydermoperiostosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_14_07_012_01.pdf
rdfs:label "肥厚性皮膚骨膜症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/14_07_012/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009799
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016620
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "798" xsd:string
dcterms:identifier "3000993" xsd:string
hasExactSynonym "anhidrotic ectodermal dysplsia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_14_08_013_01.pdf
rdfs:label "無汗性外胚葉形成不全" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/14_08_013/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3000994 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "799" xsd:string
dcterms:identifier "3000994" xsd:string
hasExactSynonym "Stevens-Johnson syndrome" @en
hasExactSynonym "Stevens-Johnson症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_14_09_014_01.pdf
rdfs:label "スティーヴンス・ジョンソン症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/14_09_014/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018229
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "799" xsd:string
dcterms:identifier "3000995" xsd:string
hasExactSynonym "Toxic epidermal necrolysis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_14_09_014_01.pdf
rdfs:label "中毒性表皮壊死症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/14_09_014/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3000994
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019810
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "800" xsd:string
dcterms:identifier "3000996" xsd:string
hasExactSynonym "Thoracic insufficiency syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_15_01_001_01.pdf
rdfs:label "胸郭不全症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/15_01_001/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "801" xsd:string
dcterms:identifier "3000997" xsd:string
hasExactSynonym "Achondroplasia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_15_02_002_01.pdf
rdfs:label "軟骨無形成症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/15_02_002/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007037
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classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "802" xsd:string
dcterms:identifier "3000998" xsd:string
hasExactSynonym "Hypochondroplasia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_15_02_003_01.pdf
rdfs:label "軟骨低形成症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/15_02_003/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007793
http://nanbyodata.jp/ontology/nanbyo#3000999 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "803" xsd:string
dcterms:identifier "3000999" xsd:string
hasExactSynonym "Osteogenesis imperfecta" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_15_02_004_01.pdf
rdfs:label "骨形成不全症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/15_02_004/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0013515
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019019
http://nanbyodata.jp/ontology/nanbyo#3001000 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "804" xsd:string
dcterms:identifier "3001000" xsd:string
hasExactSynonym "Hypophosphatasia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_15_02_005_01.pdf
rdfs:label "低ホスファターゼ症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/15_02_005/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0018570
http://nanbyodata.jp/ontology/nanbyo#3001001 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "805" xsd:string
dcterms:identifier "3001001" xsd:string
hasExactSynonym "Osteopetrosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_15_02_006_01.pdf
rdfs:label "大理石骨病" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/15_02_006/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0017198
http://nanbyodata.jp/ontology/nanbyo#3001002 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "806" xsd:string
dcterms:identifier "3001002" xsd:string
hasExactSynonym "Hereditary multiple exostosis" @en
hasExactSynonym "Multiple cartilaginous exostosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_15_02_007_01.pdf
rdfs:label "多発性軟骨性外骨腫症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/15_02_007/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005508
http://nanbyodata.jp/ontology/nanbyo#3001003 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "807" xsd:string
dcterms:identifier "3001003" xsd:string
hasExactSynonym "Dyschondroplasia" @en
hasExactSynonym "Enchondromatosis" @en
hasExactSynonym "Ollier disease" @en
hasExactSynonym "Osteochondromatosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_15_02_008_01.pdf
rdfs:label "内軟骨腫症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/15_02_008/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0005508
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007585
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008145
http://nanbyodata.jp/ontology/nanbyo#3001004 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "808" xsd:string
dcterms:identifier "3001004" xsd:string
hasExactSynonym "Type II collagenopathy" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_15_02_009_01.pdf
rdfs:label "2型コラーゲン異常症関連疾患" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/15_02_009/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3001005 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "809" xsd:string
dcterms:identifier "3001005" xsd:string
hasExactSynonym "Chondrodysplasia punctata, excluding Peroxisomal disorders" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_15_02_010_01.pdf
rdfs:label "点状軟骨異形成症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/15_02_010/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3001006 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "810" xsd:string
dcterms:identifier "3001006" xsd:string
hasExactSynonym "Pseudoachondroplasia" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_15_02_011_01.pdf
rdfs:label "偽性軟骨無形成症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/15_02_011/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008322
http://nanbyodata.jp/ontology/nanbyo#3001007 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "811" xsd:string
dcterms:identifier "3001007" xsd:string
hasExactSynonym "Larsen syndrome" @en
hasExactSynonym "Larsen症候群" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_15_02_012_01.pdf
rdfs:label "ラーセン症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/15_02_012/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007875
http://nanbyodata.jp/ontology/nanbyo#3001008 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "812" xsd:string
dcterms:identifier "3001008" xsd:string
hasExactSynonym "fibrodysplasia ossificans progressiva" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_15_02_013_01.pdf
rdfs:label "進行性骨化性線維異形成症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/15_02_013/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0003964
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007606
http://nanbyodata.jp/ontology/nanbyo#3001009 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "813" xsd:string
dcterms:identifier "3001009" xsd:string
hasExactSynonym "Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_15_02_014_01.pdf
rdfs:label "TRPV4異常症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/15_02_014/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3001010 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "814" xsd:string
dcterms:identifier "3001010" xsd:string
hasExactSynonym "osteosclerotic diseases" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_15_02_015_01.pdf
rdfs:label "骨硬化性疾患" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/15_02_015/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3001011 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "814" xsd:string
dcterms:identifier "3001011" xsd:string
hasExactSynonym "Pycnodysostosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_15_02_015_01.pdf
rdfs:label "濃化異骨症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/15_02_015/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#3001010
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0009940
http://nanbyodata.jp/ontology/nanbyo#3001012 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "815" xsd:string
dcterms:identifier "3001012" xsd:string
hasExactSynonym "Beals syndrome" @en
hasExactSynonym "Beals症候群" @ja
hasExactSynonym "Congenital contractural arachnodactyly" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_15_02_016_01.pdf
rdfs:label "ビールズ症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/15_02_016/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007363
http://nanbyodata.jp/ontology/nanbyo#3001013 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "816" xsd:string
dcterms:identifier "3001013" xsd:string
hasExactSynonym "Blue Rubber Bleb Nevus Syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_16_01_001_01.pdf
rdfs:label "青色ゴムまり様母斑症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/16_01_001/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007203
http://nanbyodata.jp/ontology/nanbyo#3001014 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "817" xsd:string
dcterms:identifier "3001014" xsd:string
hasExactSynonym "Gigantic venous malformation" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_16_01_002_01.pdf
rdfs:label "巨大静脈奇形" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/16_01_002/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3001015 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "818" xsd:string
dcterms:identifier "3001015" xsd:string
hasExactSynonym "Gigantic arteriovenous malformation" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_16_01_003_01.pdf
rdfs:label "巨大動静脈奇形" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/16_01_003/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3001016 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "819" xsd:string
dcterms:identifier "3001016" xsd:string
hasExactSynonym "Klippel-Trenanay-Weber syndrome" @en
hasExactSynonym "Klippel-Trenanay-Weber症候群" @ja
hasExactSynonym "Klippel–Trénaunay syndrome" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_16_01_004_01.pdf
rdfs:label "クリッペル・トレノネー・ウェーバー症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/16_01_004/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019566
http://nanbyodata.jp/ontology/nanbyo#3001017 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "820" xsd:string
dcterms:identifier "3001017" xsd:string
hasExactSynonym "Primary lymphedema" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_16_01_005_01.pdf
rdfs:label "原発性リンパ浮腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/16_01_005/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019175
http://nanbyodata.jp/ontology/nanbyo#3001018 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "821" xsd:string
dcterms:identifier "3001018" xsd:string
hasExactSynonym "lymphangioma" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_16_01_006_01.pdf
rdfs:label "リンパ管腫" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/16_01_006/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0002013
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0016569
http://nanbyodata.jp/ontology/nanbyo#3001019 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "822" xsd:string
dcterms:identifier "3001019" xsd:string
hasExactSynonym "lymphangiomatosis" @en
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_16_01_007_01.pdf
rdfs:label "リンパ管腫症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/16_01_007/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
http://nanbyodata.jp/ontology/nanbyo#3001020 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "823" xsd:string
dcterms:identifier "3001020" xsd:string
hasExactSynonym "HHT" @en
hasExactSynonym "Hereditary hemorrhagic telangiectasia" @en
hasExactSynonym "Osler-Weber-Rendu disease" @en
hasExactSynonym "オスラー病" @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_16_02_008_01.pdf
rdfs:label "遺伝性出血性末梢血管拡張症" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/16_02_008/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0008535
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0019180
http://nanbyodata.jp/ontology/nanbyo#3001021 (rdf:type owl:Class )
classifiedWith http://nanbyodata.jp/ontology/nanbyo#xxxxhogexxxx
has_notification_number "824" xsd:string
dcterms:identifier "3001021" xsd:string
hasExactSynonym "Kasabach-Merritt syndrome" @en
hasExactSynonym "Kasabach-Merritt症候群 " @ja
rdfs:isDefinedBy https://www.shouman.jp/archives/doc/doc_16_03_009_01.pdf
rdfs:label "カサバッハ・メリット症候群" @ja
rdfs:seeAlso https://www.shouman.jp/disease/details/16_03_009/
rdfs:subClassOf http://nanbyodata.jp/ontology/nanbyo#mondo:MONDO_0000001
skos:exactMatch http://purl.obolibrary.org/obo/MONDO_0007708

Properties

Object properties

http://nanbyodata.jp/ontology/nanbyo#classifiedWith (rdf:type owl:ObjectProperty )
rdfs:label "classified with" @en
http://nanbyodata.jp/ontology/nanbyo#has_notification_number (rdf:type owl:ObjectProperty )
rdfs:label "has notification number" @en

Datatype properties